Biology ENZYMES Flashcards

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1
Q

Describe the structure of DNA: Double helix

A

DNA is structured as a double helix, two intertwined strands twisted into a spiral shape.

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2
Q

Describe the structure of DNA including: Nucleotide

A

A nucleotide is the building block of DNA, made up of a phosphate group, a deoxyribose sugar, and a nitrogenous base.

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3
Q

Describe the structure of DNA including: Bases (A,T,G,C)

A

The nitrogenous bases in DNA are adenine (A), thymine (T), guanine (G), and cytosine (C). Adenine pairs with thymine, and guanine pairs with cytosine.

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4
Q

Determine complementary base pairing

A

Adenine (A) pairs with Thymine (T).
Guanine (G) pairs with Cytosine (C).
This means:

If one strand has an A, the opposite strand will have a T.
If one strand has a G, the opposite strand will have a C.

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5
Q

Define and compare DNA, genes, chromosomes and use models and diagrams to represent the relationship between them

A

Definitions and Comparison of DNA, Genes, and Chromosomes

  1. DNA (Deoxyribonucleic Acid)
    • Definition: DNA is a long molecule that carries the genetic blueprint of an organism. It is made up of two strands of nucleotides that form a double helix structure. DNA contains all the instructions needed for the growth, development, and functioning of living organisms.
    • Key Feature: DNA is the molecule that stores genetic information in the form of sequences of nucleotides.
  2. Gene
    • Definition: A gene is a specific segment of DNA that contains instructions for making a particular protein or RNA molecule. Genes are the functional units of heredity and determine traits and characteristics in an organism.
    • Key Feature: A gene is a functional unit of DNA that codes for a trait.
  3. Chromosome
    • Definition: A chromosome is a structure made up of tightly coiled DNA wrapped around proteins (histones). Chromosomes are found in the nucleus of cells and carry many genes. Humans typically have 46 chromosomes (23 pairs) in each cell.
    • Key Feature: Chromosomes are large structures that contain many genes organized along their length.

Comparison

Models and Diagrams

  1. DNA: Represented as a double helix (like a twisted ladder), with two strands of nucleotides held together by complementary base pairs (A-T, G-C).Diagram of DNA:
    A - T
    |   |
    G - C
  2. Gene: A gene is a specific sequence of bases (A, T, G, C) within the DNA. It can be shown as a small part of the long DNA molecule. In a diagram, it’s often marked as a region within the DNA sequence.Diagram of Gene in DNA:
    ... ATGCGTACGGTAGC ...  <-- Gene portion of DNA sequence
  3. Chromosome: Chromosomes are made of tightly coiled DNA, containing multiple genes. A chromosome can be depicted as a large “X” shape (during cell division) or as a condensed structure.Diagram of Chromosome:
      |--- Gene 1 ---|--- Gene 2 ---|--- Gene 3 ---|
       |---- DNA ---|  |---- DNA ---|  |---- DNA ---|
         Chromosome with multiple genes

Relationship Between DNA, Genes, and Chromosomes

  • DNA is the entire molecule that contains all genetic information.
  • Genes are specific segments of DNA that encode for traits or proteins.
  • Chromosomes are large, organized structures that contain long strands of DNA, and within those strands, multiple genes are arranged.

Thus, DNA is the basic substance, genes are functional units within it, and chromosomes are the structures that house multiple genes within cells.

Feature | DNA | Gene | Chromosome |
|—————-|—————————————-|——————————————|—————————————–|
| Definition | A long molecule containing genetic instructions. | A segment of DNA that codes for a specific protein or function. | A structure made of coiled DNA that contains many genes. |
| Size | Very long molecule (millions of base pairs). | Small segment of DNA (hundreds to thousands of base pairs). | Large structure made up of DNA, can contain thousands of genes. |
| Function | Stores genetic information. | Codes for specific traits or functions (e.g., proteins). | Packages and organizes DNA; carries genetic information during cell division. |
| Location | Found in the nucleus (in eukaryotes) or cytoplasm (in prokaryotes). | Found within DNA, located on chromosomes. | Located in the nucleus of eukaryotic cells. |

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6
Q

Determine mutations in complementary base pairing

A

Mutations in complementary base pairing are changes in the DNA sequence that can alter the normal pairing of bases (A-T, G-C). Types of mutations include:

  1. Substitution: One base is replaced by another (e.g., A-T → G-C), which can cause silent, missense, or nonsense mutations.
  2. Insertion: An extra base is added, shifting the reading frame (frameshift mutation).
  3. Deletion: A base is removed, also causing a frameshift mutation.
  4. Duplication: A segment of DNA is copied and inserted again.
  5. Inversion: A DNA segment is reversed.

These mutations can affect gene function, potentially leading to diseases or altered traits.

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7
Q

Explore environmental and other factors that cause mutations and identifying changes in DNA or chromosomes

A

Mutations can arise from a variety of environmental and biological factors that damage or alter DNA or chromosomes. These factors can cause changes in the DNA sequence or chromosome structure, potentially leading to genetic disorders, cancer, or other health issues. Below are some key factors that cause mutations and the mechanisms by which they occur:

  1. Environmental Factors
    These are external influences that can cause DNA damage or mutations:
  • Radiation
    • Ionizing Radiation (X-rays, gamma rays): Can break DNA strands or cause base alterations, leading to mutations. It can also cause chromosomal breaks, leading to rearrangements or loss of genetic material.
    • Ultraviolet (UV) Radiation: UV light from the sun can cause thymine bases to form dimers (thymine-thymine dimers), distorting the DNA structure and leading to mutations if not repaired.
  • Chemical Mutagens
    • Cigarette Smoke: Contains carcinogens like benzopyrene, which can bind to DNA and cause mutations.
    • Pesticides and Industrial Chemicals: Many chemicals, such as those found in certain pesticides or industrial solvents, can cause mutations by directly altering the DNA structure.
    • Aflatoxins: Produced by mold on improperly stored food (like peanuts), these can cause mutations in the p53 tumor suppressor gene, potentially leading to cancer.
  • Pollution
    • Air, water, and soil pollution can contain carcinogenic chemicals that interact with DNA, leading to mutations. For example, benzene, a known pollutant, can cause mutations by forming adducts with DNA.
  1. Biological Factors
    Certain biological processes can also lead to mutations in DNA or chromosomes:
  • Errors in DNA Replication
    • During cell division, the DNA replication process can sometimes go wrong, leading to base substitutions, insertions, or deletions. Though cells have proofreading mechanisms, errors can still occur.
  • DNA Repair Deficiencies
    • Cells have mechanisms to repair damaged DNA, such as mismatch repair and nucleotide excision repair. When these systems are faulty (due to mutations in repair genes like BRCA1 or p53), DNA damage accumulates, increasing the risk of mutations.
  • Transposons (Jumping Genes)
    • Transposons are sequences of DNA that can move around within the genome. When they “jump” into or near a gene, they can disrupt the normal function of that gene, causing mutations.
  • Viral Infections
    • Some viruses, such as Human Papillomavirus (HPV) and HIV, can integrate their DNA into the host genome. This integration can disrupt normal gene function and lead to mutations, especially in tumor suppressor genes or oncogenes.
    • Retroviruses, like HIV, can insert their RNA into the host genome, potentially causing gene rearrangements or mutations.
  1. Chromosomal Changes
    Chromosomal mutations refer to larger-scale alterations in the chromosome structure or number:
  • Deletions: A portion of a chromosome is lost, which can remove important genes.
  • Duplications: A portion of the chromosome is duplicated, leading to an increase in gene copies.
  • Inversions: A segment of a chromosome is reversed, which can disrupt gene function.
  • Translocations: A segment of one chromosome breaks off and attaches to a different chromosome, potentially causing gene fusion or loss of function.
  • Aneuploidy: The gain or loss of entire chromosomes (e.g., Down syndrome is caused by an extra copy of chromosome 21).
  1. Spontaneous Mutations
    Some mutations occur without any external influence, due to the natural chemical instability of DNA:
    - Tautomeric Shifts: Bases can undergo slight structural changes (tautomerism), which can cause incorrect base pairing during DNA replication.
    - Replicative Slippage: Repeated sequences of DNA (such as trinucleotide repeats) can cause the DNA polymerase to slip, leading to insertions or deletions in the repeating sequence.
  2. Age
    As organisms age, the efficiency of DNA repair mechanisms declines, and the accumulation of DNA damage increases. This can increase the likelihood of mutations over time, particularly in cells that divide frequently, such as stem cells.
  3. Inherited Mutations
    - Mutations can be inherited if they occur in the germline (egg or sperm cells). These inherited mutations can predispose individuals to genetic disorders or increase the risk of certain diseases, such as cystic fibrosis, sickle cell anemia, or cancer predisposition syndromes.

Identifying Mutations in DNA or Chromosomes

Mutations can be detected and analyzed through various techniques:

  1. Polymerase Chain Reaction (PCR): A method to amplify specific segments of DNA, allowing researchers to detect mutations in specific genes.
  2. Gel Electrophoresis: Used to compare the sizes of DNA fragments to identify insertions, deletions, or duplications.
  3. DNA Sequencing: Determines the exact sequence of nucleotides in a DNA segment, allowing for precise identification of base substitutions, insertions, or deletions.
  4. Fluorescence in situ Hybridization (FISH): A technique used to identify chromosomal abnormalities, such as translocations or aneuploidy, by using fluorescent probes that bind to specific chromosome regions.
  5. Karyotyping: A method of visualizing chromosomes under a microscope, used to detect large chromosomal mutations like deletions, duplications, or changes in chromosome number.

Conclusion
Mutations can be caused by a variety of factors, including environmental exposure (radiation, chemicals, pollution), biological processes (errors in DNA replication, transposons), and chromosomal changes. Identifying mutations through DNA sequencing, PCR, and other techniques is crucial for understanding genetic disorders, cancer, and the genetic basis of diseases.

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8
Q

Determine the haploid and diploid number of chromosomes of an organism

A

The haploid and diploid numbers of chromosomes refer to the number of chromosomes found in different types of cells in an organism. Here’s the distinction:

  1. Diploid Number (2n)
    - The diploid number refers to the total number of chromosomes in a somatic cell (any cell other than sperm or egg cells).
    - A diploid cell contains two sets of chromosomes, one from each parent. In humans, for example, the diploid number is 46 chromosomes (23 pairs of chromosomes).
  2. Haploid Number (n)
    - The haploid number refers to the number of chromosomes in a gamete (sperm or egg cell).
    - A haploid cell contains only one set of chromosomes. In humans, the haploid number is 23 chromosomes, which is half of the diploid number.

How to Determine the Haploid and Diploid Numbers:
- The diploid number is typically the total chromosome count found in the body cells (somatic cells) of the organism.
- The haploid number is half the diploid number and is found in the gametes (egg and sperm cells).

Example: Humans
- Diploid Number (2n): 46 chromosomes (23 pairs).
- Haploid Number (n): 23 chromosomes.

Example: Fruit Fly (Drosophila melanogaster)
- Diploid Number (2n): 8 chromosomes (4 pairs).
- Haploid Number (n): 4 chromosomes.

Example: Pea Plant (Pisum sativum)
- Diploid Number (2n): 14 chromosomes (7 pairs).
- Haploid Number (n): 7 chromosomes.

In summary:
- Diploid number: Total chromosomes in somatic cells (2n).
- Haploid number: Chromosomes in gametes (n), half the diploid number.

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9
Q

Explain mitosis and meiosis (overview and stages)

A

Overview of Mitosis and Meiosis

Mitosis and meiosis are both processes of cell division, but they serve different purposes and result in different outcomes.

  • Mitosis is responsible for producing two genetically identical daughter cells, which is used for growth, repair, and asexual reproduction.
  • Meiosis is a type of cell division that reduces the chromosome number by half, resulting in four genetically unique gametes (sperm or egg cells) used in sexual reproduction.

Mitosis – Cell Division for Growth and Repair

Mitosis produces two genetically identical diploid cells from a single diploid cell. It occurs in somatic cells (non-reproductive cells). The stages of mitosis are:

1. Interphase (Preparation Phase)
- G1 (Gap 1): The cell grows, synthesizes proteins, and prepares for DNA replication.
- S (Synthesis): The cell’s DNA is replicated, so there are two copies of each chromosome.
- G2 (Gap 2): The cell continues to grow and prepares for division by synthesizing proteins and organelles.

Note: Interphase is technically not part of mitosis but is essential for the preparation of the division process.

2. Prophase
- Chromosomes condense and become visible.
- The nuclear envelope begins to break down.
- The mitotic spindle (composed of microtubules) starts to form from the centrosomes.
- The centrioles (in animal cells) move toward opposite poles of the cell.

3. Metaphase
- The chromosomes line up along the metaphase plate (the cell’s equator).
- Spindle fibers attach to the centromere of each chromosome, securing them in place.

4. Anaphase
- The centromeres split, and the sister chromatids (identical copies of each chromosome) are pulled apart toward opposite poles of the cell by the spindle fibers.

5. Telophase
- Chromatids reach the poles and begin to uncoil, returning to their chromatin form.
- The nuclear envelope re-forms around each set of chromosomes.
- The spindle fibers dissolve.

6. Cytokinesis
- This is the final step where the cytoplasm divides, resulting in two distinct daughter cells. In animal cells, a cleavage furrow forms and pinches the cell into two. In plant cells, a cell plate forms, eventually leading to the creation of a new cell wall.

Result of Mitosis: Two genetically identical diploid daughter cells.

Meiosis – Cell Division for Sexual Reproduction

Meiosis reduces the chromosome number by half, producing four genetically unique haploid gametes (sperm or egg cells) from one diploid cell. This process involves two rounds of division: Meiosis I and Meiosis II.

Meiosis I – Reduction Division (Chromosome Number Halved)
Meiosis I reduces the chromosome number from diploid (2n) to haploid (n).

1. Prophase I
- Chromosomes condense and become visible.
- Homologous chromosomes (chromosomes of the same type, one from each parent) pair up in a process called synapsis to form tetrads (pairs of homologous chromosomes).
- Crossing over occurs: sections of chromatids may exchange between homologous chromosomes, increasing genetic variation.
- The nuclear envelope breaks down, and the spindle fibers form.

2. Metaphase I
- The tetrads (paired homologous chromosomes) align along the metaphase plate.
- Spindle fibers attach to the centromeres of each homologous chromosome.

3. Anaphase I
- Homologous chromosomes are separated and pulled toward opposite poles of the cell (each chromosome still consists of two sister chromatids).
- Independent assortment occurs, where the way chromosomes align and separate is random, contributing to genetic diversity.

4. Telophase I
- Chromosomes reach the poles and the nuclear envelope reforms.
- The cell divides through cytokinesis, resulting in two haploid daughter cells (each containing half the original chromosome number).

Meiosis II – Division Similar to Mitosis (Chromosome Number Remains Haploid)

Meiosis II separates the sister chromatids of each chromosome and results in four haploid cells.

1. Prophase II
- Chromosomes condense again.
- A new spindle forms in each of the two haploid cells.
- The nuclear envelope breaks down.

2. Metaphase II
- Chromosomes line up along the metaphase plate in each haploid cell.

3. Anaphase II
- The sister chromatids of each chromosome are pulled apart toward opposite poles of the cell.

4. Telophase II
- Chromatids reach the poles and the nuclear envelope reforms.
- Cytokinesis divides the two haploid cells, resulting in a total of four genetically unique haploid gametes.

Result of Meiosis: Four genetically diverse haploid gametes, each with half the chromosome number of the original cell.

Key Differences Between Mitosis and Meiosis

Conclusion

  • Mitosis produces two identical diploid cells for growth and repair.
  • Meiosis reduces the chromosome number by half, producing four genetically diverse haploid gametes for sexual reproduction.

Both processes are essential for life: mitosis enables organisms to grow and repair, while meiosis contributes to genetic diversity in offspring.

Feature | Mitosis | Meiosis |
|—————————–|————————————————|———————————————|
| Purpose | Growth, repair, asexual reproduction | Sexual reproduction, forming gametes |
| Number of Divisions | One division (Prophase, Metaphase, Anaphase, Telophase) | Two divisions (Meiosis I and Meiosis II) |
| Chromosome Number | Daughter cells are diploid (2n) | Daughter cells are haploid (n) |
| Genetic Variation | Identical daughter cells (no variation) | Genetic variation through crossing over and independent assortment |
| Number of Daughter Cells| Two daughter cells | Four daughter cells |

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10
Q

Define:
* Sex chromosomes, autosomes, homologous chromosomes

A

Definitions:

  1. Sex Chromosomes
    • Definition: Sex chromosomes are chromosomes that determine the sex (gender) of an organism. In humans and many other species, there are two types of sex chromosomes: X and Y.
    • Humans: Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The presence of two X chromosomes typically results in female development, while the presence of an X and a Y chromosome typically results in male development.
  2. Autosomes
    • Definition: Autosomes are all the chromosomes in an organism that are not sex chromosomes. They carry the majority of an organism’s genetic information, determining traits unrelated to gender.
    • Humans: Humans have 22 pairs of autosomes (for a total of 44 autosomes), which are numbered 1 to 22, based on size and structure.
  3. Homologous Chromosomes
    • Definition: Homologous chromosomes are pairs of chromosomes that have the same structure and carry the same types of genes, but may have different versions (alleles) of those genes. One chromosome in each pair comes from the mother, and the other comes from the father.
    • Example: In humans, chromosome 1 from the mother and chromosome 1 from the father are homologous chromosomes. Although they carry the same types of genes (such as eye color or blood type), they may carry different versions (alleles) of those genes.

Summary:
- Sex chromosomes determine gender (X and Y chromosomes).
- Autosomes are non-sex chromosomes that carry most of an organism’s genetic information.
- Homologous chromosomes are pairs of chromosomes, one from each parent, that have the same genes but may carry different alleles.

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11
Q

Define: Alleles

A

Alleles
- Definition: Alleles are different versions or variants of a gene that can exist at a specific locus (position) on a chromosome. They arise due to mutations or genetic variation and can lead to different traits or characteristics in an organism. Each individual typically has two alleles for each gene—one inherited from the mother and one from the father.

  • Example: For the gene that determines eye color, there might be different alleles for brown, blue, or green eyes. In this case:
    • Brown (B) and blue (b) could be two different alleles for the eye color gene.
    • An individual might inherit one allele for brown eyes (B) from one parent and one allele for blue eyes (b) from the other parent.
  • Types of Alleles:
    1. Dominant allele: An allele that expresses its trait even if only one copy is present. (e.g., B for brown eyes is dominant over b for blue eyes).
    2. Recessive allele: An allele that expresses its trait only if two copies are present (one from each parent). (e.g., b for blue eyes will only show if both alleles are b).
  • Genotype vs. Phenotype:
    • Genotype refers to the genetic makeup of an individual, the combination of alleles they possess for a particular gene.
    • Phenotype is the observable trait or characteristic, such as eye color, that results from the interaction of alleles.

Example of Alleles in a Punnett Square:

For a gene with two alleles (B and b):
- BB: Homozygous dominant (brown eyes)
- Bb: Heterozygous (brown eyes, since B is dominant)
- bb: Homozygous recessive (blue eyes)

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12
Q

Define: Dominant/recessive

A

Dominant and Recessive Alleles

  1. Dominant Allele
    • Definition: A dominant allele is an allele that expresses its trait in the phenotype even when only one copy of the allele is present in the genotype. In other words, if an individual has at least one dominant allele for a given gene, the trait associated with that allele will be visible in the organism.
    • Notation: Dominant alleles are typically represented by uppercase letters (e.g., A, B).
    • Example: For the gene determining pea plant flower color, the allele for purple flowers (P) is dominant. A pea plant with the genotype Pp (heterozygous) will have purple flowers, as the dominant P allele “masks” the effect of the recessive p allele.
  2. Recessive Allele
    • Definition: A recessive allele is an allele whose trait is only expressed in the phenotype if two copies of the allele (homozygous recessive) are present in the genotype. If only one recessive allele is present (in a heterozygous individual), the trait is not expressed because it is masked by the dominant allele.
    • Notation: Recessive alleles are typically represented by lowercase letters (e.g., a, b).
    • Example: For the same pea plant flower color gene, the allele for white flowers (p) is recessive. A pea plant must have the genotype pp (homozygous recessive) for the flower color to be white. If it is Pp (heterozygous), the plant will have purple flowers due to the dominance of the P allele.

Summary:

  • Dominant allele: Expresses its trait even with only one copy (e.g., P for purple flowers).
  • Recessive allele: Only expresses its trait when two copies are present (e.g., p for white flowers).

Genotype Examples:
- Dominant homozygous (two dominant alleles): AA or PP
- Heterozygous (one dominant, one recessive allele): Aa or Pp
- Recessive homozygous (two recessive alleles): aa or pp

In a heterozygous individual, the dominant allele masks the effect of the recessive allele.

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13
Q

Define: Dominance: Incomplete, co-dominance

A

Dominance: Incomplete Dominance and Co-dominance

Dominance refers to the relationship between alleles of a gene and how they influence the organism’s phenotype (observable traits). While complete dominance is the most common form (where one allele fully masks the expression of the other), there are two other types of dominance: incomplete dominance and co-dominance.

1. Incomplete Dominance
- Definition: In incomplete dominance, neither allele is completely dominant over the other. Instead, the heterozygous individual exhibits a blend of the two traits. The resulting phenotype is intermediate between the two homozygous phenotypes.
- Key Points:
- The heterozygous phenotype is a mixture or blending of the two alleles.
- This results in an intermediate phenotype that is distinct from both the homozygous dominant and homozygous recessive phenotypes.

  • Example: In snapdragon flowers, the allele for red flowers (R) is incompletely dominant over the allele for white flowers (r).
    • RR = Red flowers
    • rr = White flowers
    • Rr = Pink flowers (a blend of red and white)

2. Co-dominance
- Definition: In co-dominance, both alleles are fully expressed in the heterozygous individual. Instead of blending, both traits appear together, with each allele contributing equally to the phenotype.
- Key Points:
- Both alleles are visibly expressed in the organism’s phenotype, with neither allele being dominant or recessive.
- The individual shows both traits simultaneously, not a mix of them.

  • Example: In human blood types, the alleles for A and B blood types are co-dominant.
    • IA (A allele) and IB (B allele) are both expressed in individuals with genotype IAIB.
    • IAIA or IAi results in Type A blood.
    • IBIB or IBi results in Type B blood.
    • IAIB results in Type AB blood, where both A and B antigens are expressed on the surface of red blood cells.

Summary of Dominance Types

Key Takeaways:
- Incomplete dominance: The heterozygote shows a mix of the two traits (e.g., pink flowers from red and white parents).
- Co-dominance: Both traits are expressed fully and separately in the heterozygote (e.g., both A and B blood types in a person with AB blood).

Type of Dominance | Definition | Example |
|—————————|—————————————————————|——————————|
| Complete Dominance | One allele completely masks the expression of the other. | Purple flowers in pea plants (P = purple, p = white) |
| Incomplete Dominance | Neither allele is fully dominant; the heterozygous phenotype is an intermediate blend of both alleles. | Pink flowers in snapdragons (R = red, r = white) |
| Co-dominance | Both alleles are equally expressed in the heterozygous individual, with no blending. | AB blood type in humans (IA and IB alleles) |

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14
Q

Define: * Homozygous/heterozygous

A

Homozygous and Heterozygous

These terms describe the genetic makeup (genotype) of an organism with respect to a particular gene or trait. They refer to the alleles present for a specific gene.

1. Homozygous
- Definition: An organism is homozygous for a gene if it has two identical alleles for that gene, one inherited from each parent.
- Key Points:
- Homozygous dominant: Both alleles are the same and dominant (e.g., AA).
- Homozygous recessive: Both alleles are the same and recessive (e.g., aa).
- Example:
- For flower color in peas, if the plant has two dominant alleles (AA) or two recessive alleles (aa), it is considered homozygous for that gene.

2. Heterozygous
- Definition: An organism is heterozygous for a gene if it has two different alleles for that gene, one inherited from each parent.
- Key Points:
- The two alleles are different, one being dominant and the other recessive (e.g., Aa).
- The dominant allele will determine the organism’s phenotype in a heterozygous pair.
- Example:
- If a plant has one dominant allele (A) and one recessive allele (a) for flower color, its genotype is Aa (heterozygous), and the flower will show the dominant trait (e.g., purple flowers in the case of A being dominant over a).

Summary of Homozygous and Heterozygous

Key Points:
- Homozygous: Same alleles for a trait.
- Heterozygous: Different alleles for a trait.

Term | Definition | Example |
|—————-|——————————————————|——————————|
| Homozygous | Two identical alleles for a gene (either both dominant or both recessive) | AA (homozygous dominant) or aa (homozygous recessive) |
| Heterozygous | Two different alleles for a gene (one dominant and one recessive) | Aa (heterozygous) |

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15
Q

Define: Genotype/phenotype

A

Genotype and Phenotype

These terms are used to describe an organism’s genetic makeup and the physical traits that result from it.

1. Genotype
- Definition: The genotype refers to the genetic makeup of an organism—the specific set of alleles it carries for a particular gene or trait. The genotype is determined by the combination of alleles inherited from both parents.
- Key Points:
- It is the internal genetic code of an organism.
- The genotype is typically represented by letters that indicate the alleles for a gene (e.g., AA, Aa, aa).
- The genotype includes both dominant and recessive alleles.

  • Example: If a plant has the genotype Aa, it has one dominant allele (A) for a trait and one recessive allele (a). This means it carries the genetic information for that trait, but the dominant allele will influence the phenotype.

2. Phenotype
- Definition: The phenotype is the observable physical or behavioral traits of an organism that result from the interaction of its genotype with the environment. It is the expression of the genotype in the organism’s appearance or behavior.
- Key Points:
- The phenotype is the visible or measurable traits, such as flower color, height, or blood type.
- It is influenced not only by the genotype but also by environmental factors (e.g., diet, climate, exposure to sunlight).

  • Example: If a plant with the genotype Aa (heterozygous) has purple flowers because the dominant allele (A) codes for purple, the phenotype would be “purple flowers”. Even though the plant has both A and a alleles, the dominant A allele determines the visible trait.

Genotype vs. Phenotype

Key Differences:
- Genotype: Refers to the actual genetic sequence (alleles) an organism has.
- Phenotype: Refers to the physical expression of those genetic traits, which is influenced by the genotype and the environment.

In summary, the genotype is what an organism inherits, and the phenotype is what it expresses or shows.

Term | Definition | Example |
|—————|——————————————————————-|——————————————–|
| Genotype | The genetic makeup (the combination of alleles) of an organism. | AA (homozygous dominant), Aa (heterozygous), aa (homozygous recessive) |
| Phenotype | The observable characteristics or traits of an organism. | Purple flowers (from genotype AA or Aa) or White flowers (from genotype aa) |

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16
Q

Use a karyotype to determine sex and chromosomal abnormalities (mutations)

A

Using a Karyotype to Determine Sex and Chromosomal Abnormalities

A karyotype is a visual representation of an organism’s chromosomes arranged in pairs by size, shape, and number. It can be used to determine the sex of an individual and identify chromosomal abnormalities that might lead to genetic disorders.

1. Determining Sex Using a Karyotype

In humans, the sex chromosomes (X and Y) are the determining factor for sex:

  • Female: A female has two X chromosomes (XX).
    • Karyotype example: 46, XX
    • The karyotype will show 22 pairs of autosomes and 1 pair of X chromosomes.
  • Male: A male has one X and one Y chromosome (XY).
    • Karyotype example: 46, XY
    • The karyotype will show 22 pairs of autosomes and 1 pair of XY sex chromosomes.

Example of Karyotype for Sex Determination:
- Normal Female: Karyotype would show 46 chromosomes, including a pair of X chromosomes.
- Normal Male: Karyotype would show 46 chromosomes, including a pair of XY sex chromosomes.

2. Chromosomal Abnormalities (Mutations) and How They Appear on a Karyotype

Chromosomal abnormalities can be identified by looking at the number or structure of chromosomes in a karyotype. These abnormalities are often caused by mutations during cell division, such as non-disjunction (failure of chromosomes to separate properly), which leads to an abnormal number of chromosomes.

Types of Chromosomal Abnormalities:

  1. Down Syndrome (Trisomy 21)
    • Cause: An extra copy of chromosome 21.
    • Karyotype: 47, XX, +21 (female with Down syndrome) or 47, XY, +21 (male with Down syndrome).
    • Appearance: There will be three copies of chromosome 21 instead of two.
  2. Turner Syndrome (Monosomy X)
    • Cause: A female has only one X chromosome instead of two (a missing second sex chromosome).
    • Karyotype: 45, X (female with Turner syndrome).
    • Appearance: There will be only one X chromosome and no second sex chromosome (no second X or Y).
  3. Klinefelter Syndrome (XXY)
    • Cause: A male has an extra X chromosome (XXY).
    • Karyotype: 47, XXY (male with Klinefelter syndrome).
    • Appearance: There will be two X chromosomes and one Y chromosome.
  4. Triple X Syndrome (Trisomy X)
    • Cause: A female has an extra X chromosome (XXX).
    • Karyotype: 47, XXX (female with Triple X syndrome).
    • Appearance: There will be three X chromosomes and the normal 22 pairs of autosomes.
  5. Patau Syndrome (Trisomy 13)
    • Cause: An extra copy of chromosome 13.
    • Karyotype: 47, XX, +13 (female) or 47, XY, +13 (male).
    • Appearance: There will be three copies of chromosome 13.
  6. Edwards Syndrome (Trisomy 18)
    • Cause: An extra copy of chromosome 18.
    • Karyotype: 47, XX, +18 (female) or 47, XY, +18 (male).
    • Appearance: There will be three copies of chromosome 18.
  7. Cri du Chat Syndrome
    • Cause: A deletion of a part of chromosome 5.
    • Karyotype: 46, XX, del(5p) (female with Cri du Chat) or 46, XY, del(5p) (male).
    • Appearance: The short arm of chromosome 5 (the p arm) is missing.

How to Use a Karyotype to Identify Abnormalities:

  1. Count the Number of Chromosomes:
    The normal human karyotype has 46 chromosomes (23 pairs), with 22 pairs of autosomes and 1 pair of sex chromosomes (XX for females or XY for males). If there is an abnormal number (e.g., 47 chromosomes), it may indicate a genetic disorder like Down syndrome (trisomy 21).
  2. Examine the Chromosomes for Structural Changes:
    Sometimes the chromosome number is normal, but the structure of the chromosomes is altered. Look for:
    • Missing parts (deletions).
    • Extra parts (duplications).
    • Chromosomes joined together (translocations).
    • Unusual shapes (inversions).

Summary:

  • Sex Determination:
    • XX = Female
    • XY = Male
  • Common Chromosomal Abnormalities:
    • Down Syndrome: Trisomy 21 (47, XX, +21 or 47, XY, +21).
    • Turner Syndrome: Monosomy X (45, X).
    • Klinefelter Syndrome: XXY (47, XXY).
    • Triple X Syndrome: XXX (47, XXX).
    • Patau Syndrome: Trisomy 13 (47, XX, +13 or 47, XY, +13).
    • Edwards Syndrome: Trisomy 18 (47, XX, +18 or 47, XY, +18).
    • Cri du Chat Syndrome: Deletion on chromosome 5 (46, XX, del(5p)).

By analyzing the karyotype, you can determine not only the biological sex of an individual but also identify any chromosomal abnormalities that could cause genetic disorders.

17
Q

Construct and analyse Punnett squares to determine phenotypic and genotypic outcomes of a monohybrid cross using standard notations for the different patterns of inheritance:
* (complete) dominance
* Incomplete dominance
* Co-dominance
* Sex-linked (X-linked)

A

Punnett Squares for Different Patterns of Inheritance

A Punnett square is a tool used to predict the genotypic and phenotypic outcomes of a cross between two individuals. Below, we’ll construct and analyze Punnett squares for four patterns of inheritance: complete dominance, incomplete dominance, co-dominance, and sex-linked (X-linked).

1. Complete Dominance
In complete dominance, one allele (the dominant allele) completely masks the effect of the other allele (the recessive allele) in the heterozygous state.

Example:
Consider the trait for flower color in pea plants, where P (purple) is dominant over p (white).

  • Genotypes:
    • PP = Purple flowers (homozygous dominant)
    • Pp = Purple flowers (heterozygous)
    • pp = White flowers (homozygous recessive)

Punnett Square for a Pp x Pp cross:

Genotypic Ratio:
- 1 PP : 2 Pp : 1 pp

Phenotypic Ratio:
- 3 Purple : 1 White (because purple is dominant, both PP and Pp result in purple flowers).

2. Incomplete Dominance
In incomplete dominance, neither allele is completely dominant over the other, and the heterozygous phenotype is a blend of the two homozygous phenotypes.

Example:
Consider a cross for flower color in snapdragons, where R (red) and r (white) exhibit incomplete dominance.
- RR = Red flowers
- rr = White flowers
- Rr = Pink flowers (blend of red and white)

Punnett Square for a Rr x Rr cross:

| | R | r |
|———|——–|——–|
| R | RR | Rr |
| r | Rr | rr |

Genotypic Ratio:
- 1 RR : 2 Rr : 1 rr

Phenotypic Ratio:
- 1 Red : 2 Pink : 1 White (because pink is the intermediate phenotype).

3. Co-dominance
In co-dominance, both alleles are equally expressed in the heterozygous state, with no blending. Both traits appear simultaneously.

Example:
Consider blood type inheritance, where the IA and IB alleles are co-dominant for the AB blood group.
- IAIA = Type A blood
- IBIB = Type B blood
- IAIB = Type AB blood
- ii = Type O blood (recessive)

Punnett Square for a IAIB x IAi cross (heterozygous AB x heterozygous A):

| | IA | i |
|———|———|——–|
| IA | IAIA | IAi |
| IB | IAIB | IBi |

Genotypic Ratio:
- 1 IAIA : 1 IAi : 1 IAIB : 1 IBi

Phenotypic Ratio:
- 2 Type A : 2 Type AB : 2 Type B
(As both IA and IB are co-dominant, IAIB results in the AB blood type, and IAIA or IAi results in Type A, while IBi gives Type B).

4. Sex-linked (X-linked) Inheritance
Sex-linked traits are carried on the X chromosome, and males (XY) are more likely to express X-linked recessive traits because they have only one X chromosome. Females (XX) need two copies of the recessive allele to express the trait.

Example:
Consider color blindness, which is an X-linked recessive trait. Let’s assume:
- Xᴮ = Normal vision (dominant allele)
- Xᶜ = Color blindness (recessive allele)

Punnett Square for a XᴮXᶜ x XᴮY cross (female carrier x normal male):

| | Xᴮ | Y |
|———|——–|——–|
| Xᴮ | XᴮXᴮ | XᴮY |
| Xᶜ | XᴮXᶜ | XᶜY |

Genotypic Ratio:
- 1 XᴮXᴮ : 1 XᴮXᶜ : 1 XᴮY : 1 XᶜY

Phenotypic Ratio:
- 2 Normal vision females : 1 Color-blind male : 1 Normal vision male

  • Explanation:
    • XᴮXᴮ (female) = Normal vision
    • XᴮXᶜ (female) = Carrier (normal vision, but carrier of color blindness)
    • XᴮY (male) = Normal vision
    • XᶜY (male) = Color blind

In this cross, males only need one copy of the Xᶜ allele to be color blind, while females need two copies (one on each X chromosome).

Summary of Patterns of Inheritance:

| Pattern | Example | Key Characteristic | Punnett Square Outcome |
|———————–|—————————|————————————————-|—————————————————————|
| Complete Dominance | Pea plant flower color | One allele fully masks the other. | 3:1 phenotypic ratio (e.g., Pp x Pp) |
| Incomplete Dominance | Snapdragon flower color | Heterozygote exhibits an intermediate phenotype. | 1:2:1 phenotypic ratio (e.g., Rr x Rr) |
| Co-dominance | Blood type inheritance | Both alleles are equally expressed. | 1:1:1:1 genotypic ratio (e.g., IAIB x IAi) |
| Sex-linked | Color blindness (X-linked) | Traits carried on the X chromosome. | Depends on sex (e.g., XᴮXᶜ x XᴮY: 2 normal females, 1 normal male, 1 color-blind male) |

By constructing and analyzing these Punnett squares, you can predict the likely outcomes of genetic crosses involving various inheritance patterns.

| P | p |
|———|——-|——-|
| P | PP | Pp |
| p | Pp | pp |

18
Q

Understand the heredity of blood groups (A, B, AB, O)

A

Heredity of Blood Groups (A, B, AB, O)

Blood type inheritance in humans follows the principles of Mendelian genetics but involves multiple alleles and codominance. There are four main blood types: A, B, AB, and O. These blood types are determined by the ABO blood group system, which is controlled by a single gene with three alleles: IA, IB, and i.

Key Blood Group Alleles:
1. IA (A allele): Codes for A antigen on the surface of red blood cells.
2. IB (B allele): Codes for B antigen on the surface of red blood cells.
3. i (O allele): Does not produce any antigens (recessive allele).

  • IA and IB are codominant, meaning both alleles are expressed when present together (as in AB blood type).
  • The i allele is recessive and does not express any antigens unless it is paired with another i allele (i.e., for blood type O).

Possible Blood Types

The four main blood types are the result of combinations of these alleles. Here’s how they are determined:

Important Points:
- Type A blood: Genotype can be IAIA or IAi. It expresses A antigens and has Anti-B antibodies.
- Type B blood: Genotype can be IBIB or IBi. It expresses B antigens and has Anti-A antibodies.
- Type AB blood: Genotype is IAIB. It expresses both A and B antigens and has no antibodies (universal recipient).
- Type O blood: Genotype is ii. It expresses no antigens and has Anti-A and Anti-B antibodies (universal donor).

Punnett Squares for Blood Group Inheritance

1. Type A x Type B (IAIB x IBi)
Let’s cross a person with blood type AB (IAIB) with a person with blood type B (IBi).

| | IA | IB |
|——–|——–|——–|
| IB | IAIB (AB) | IBIB (B) |
| i | IAi (A) | IBi (B) |

Genotypic Ratio:
- 1 IAIB : 2 IBIB : 1 IAi : 1 IBi

Phenotypic Ratio:
- 2 Type B : 1 Type AB : 1 Type A

2. Type A x Type O (IAi x ii)
Let’s cross a person with blood type A (IAi) with a person with blood type O (ii).

| | IA | i |
|——–|——–|——–|
| i | IAi (A) | ii (O) |
| i | IAi (A) | ii (O) |

Genotypic Ratio:
- 2 IAi : 2 ii

Phenotypic Ratio:
- 2 Type A : 2 Type O

3. Type AB x Type O (IAIB x ii)
Let’s cross a person with blood type AB (IAIB) with a person with blood type O (ii).

| | IA | IB |
|——–|——–|——–|
| i | IAi (A) | IBi (B) |
| i | IAi (A) | IBi (B) |

Genotypic Ratio:
- 2 IAi : 2 IBi

Phenotypic Ratio:
- 2 Type A : 2 Type B

Blood Type Inheritance Summary

Possible Genotypes and Phenotypes:
- Blood Type A: Can have the genotype IAIA or IAi.
- Blood Type B: Can have the genotype IBIB or IBi.
- Blood Type AB: Has the genotype IAIB (universal recipient).
- Blood Type O: Has the genotype ii (universal donor).

Key Points to Remember:
- Codominance: Both IA and IB alleles are expressed in blood type AB.
- Recessive: The i allele only expresses its phenotype when paired with another i allele (blood type O).
- Universal Donor: Type O blood can be donated to any other blood type because it has no antigens.
- Universal Recipient: Type AB blood can receive blood from any other type because it has no antibodies against A or B antigens.

By analyzing the inheritance patterns using Punnett squares, we can predict the likelihood of offspring inheriting particular blood types based on the parental genotypes.

Genotype | Blood Type | Antigens on Red Blood Cells | Antibodies in Plasma |
|————–|—————-|———————————-|————————–|
| IAIA or IAi | Type A | A antigens | Anti-B antibodies |
| IBIB or IBi | Type B | B antigens | Anti-A antibodies |
| IAIB | Type AB | Both A and B antigens | None (universal recipient) |
| ii | Type O | No antigens | Anti-A and Anti-B antibodies (universal donor) |

19
Q

Analyse simple pedigree charts to determine genotypes and phenotypes

A

Analyzing Pedigree Charts to Determine Genotypes and Phenotypes

A pedigree chart is a family tree that shows the inheritance of traits through generations. It helps to track dominant and recessive traits and deduce possible genotypes of individuals. Pedigree charts use standard symbols to represent family members and their phenotypes, and they can help us determine an individual’s genotype based on their phenotype and the inheritance pattern.

Symbols Used in Pedigree Charts

  • Circles represent females.
  • Squares represent males.
  • Shaded symbols indicate that the individual expresses the trait (phenotype is affected by the trait).
  • Unshaded symbols indicate that the individual does not express the trait (phenotype is unaffected by the trait).
  • Horizontal lines connect mating pairs.
  • Vertical lines connect parents to their offspring.

Steps for Analyzing Pedigree Charts

  1. Determine the Trait Inheritance Pattern:
    • Autosomal Dominant: The trait will appear in every generation, and affected individuals can have unaffected children if they are heterozygous.
    • Autosomal Recessive: The trait may skip generations, and two unaffected parents can have an affected child if both are carriers (heterozygous).
    • Sex-Linked (X-linked) Dominant: Typically seen in females more than males, as males have only one X chromosome.
    • Sex-Linked (X-linked) Recessive: Often seen more in males because they have only one X chromosome.
  2. Look for Patterns:
    • If a trait appears in every generation, it is likely dominant.
    • If the trait skips generations or is only expressed when both parents are carriers, it is likely recessive.
    • If males are more frequently affected than females, and if the trait is passed from mother to son, it is likely X-linked.
  3. Determine Genotypes:
    • Homozygous dominant (AA): Both alleles for the trait are dominant.
    • Heterozygous (Aa): One dominant and one recessive allele (for recessive traits, they will show the dominant phenotype).
    • Homozygous recessive (aa): Both alleles are recessive, and the individual will express the recessive phenotype.

Example 1: Autosomal Dominant Trait

Let’s analyze a pedigree for an autosomal dominant trait (e.g., Huntington’s disease), where H represents the dominant allele (disease) and h represents the recessive allele (no disease).

Pedigree Chart:

  • Generation I: The parents are Hh (affected) and hh (unaffected). They produce children, and one of them is Hh (affected).
  • Generation II: The children of the first generation are Hh (affected) and hh (unaffected). One child is Hh, and the other is hh.
  • Generation III: The next generation has children, and only one child shows the affected phenotype (Hh).

Genotypes & Phenotypes:
- I-1: Hh (Affected)
- I-2: hh (Unaffected)
- II-1: Hh (Affected)
- II-2: hh (Unaffected)
- III-1: Hh (Affected)
- III-2: hh (Unaffected)

In this case, the autosomal dominant trait appears in every generation, and heterozygous individuals (Hh) express the dominant trait.

Example 2: Autosomal Recessive Trait

Now, let’s look at a pedigree for an autosomal recessive trait (e.g., Cystic Fibrosis), where C is the dominant normal allele and c is the recessive allele (disease).

Pedigree Chart:

| | I | II | III |
|—–|———-|———|———-|
| 1 | Cc | cc | Cc |
| 2 | Cc | cc | cc |
| 3 | CC | Cc | Cc |
| 4 | Cc | cc | Cc |

  • Generation I: The parents are Cc (carriers) and Cc (carriers), both unaffected. They produce children, one of whom is affected (cc) and two are carriers (Cc).
  • Generation II: The children of the first generation include cc (affected) and Cc (carriers).
  • Generation III: In the third generation, some children are carriers (Cc), and one is affected (cc).

Genotypes & Phenotypes:
- I-1: Cc (Carrier, unaffected)
- I-2: Cc (Carrier, unaffected)
- II-1: cc (Affected)
- II-2: Cc (Carrier, unaffected)
- III-1: Cc (Carrier, unaffected)
- III-2: cc (Affected)
- III-3: Cc (Carrier, unaffected)

In this case, the trait is autosomal recessive, so it is only expressed in individuals who are homozygous recessive (cc), and the trait can skip generations (as seen in the carriers).

Example 3: X-linked Recessive Trait

Let’s analyze a pedigree for an X-linked recessive trait (e.g., Colorblindness), where Xᴮ represents the normal vision allele and Xᶜ represents the colorblind allele.

Pedigree Chart:

| | I | II | III |
|—–|———-|———|———-|
| 1 | XᴮXᴮ | XᴮXᶜ | XᴮXᶜ |
| 2 | XᴮY | XᶜY | XᴮY |
| 3 | XᴮXᶜ | XᴮY | XᴮXᶜ |

  • Generation I: The female is XᴮXᴮ (normal vision), and the male is XᴮY (normal vision). They have a son (XᴮY, normal vision) and a daughter (XᴮXᶜ, carrier).
  • Generation II: The daughter from Generation I (XᴮXᶜ, carrier) mates with a male who has XᶜY (colorblind). They have children, one of whom is colorblind (XᴮY), and another is a carrier.
  • Generation III: The offspring of Generation II include both carriers (XᴮXᶜ) and colorblind individuals (XᴮY).

Genotypes & Phenotypes:
- I-1: XᴮXᴮ (Normal vision)
- I-2: XᴮY (Normal vision)
- II-1: XᴮXᶜ (Carrier, normal vision)
- II-2: XᶜY (Colorblind)
- III-1: XᴮXᶜ (Carrier, normal vision)
- III-2: XᴮY (Normal vision)
- III-3: XᴮXᶜ (Carrier, normal vision)

In X-linked recessive inheritance, males are more often affected than females, and an affected male will pass the allele to all his daughters, but none of his sons (as he passes his Y chromosome to sons).

Summary

  • Autosomal Dominant: The trait appears in every generation, and affected individuals can have unaffected children if they are heterozygous.
  • Autosomal Recessive: The trait can skip generations, and affected individuals have parents who are either both carriers or both affected.
  • X-linked Recessive: Males are more frequently affected, and the trait is passed from carrier mothers to sons. Female carriers are unaffected but can pass the trait to their children.

| I | II | III |
|—–|———-|———|———-|
| 1 | Hh | Hh | hh |
| 2 | hh | hh | Hh |
| 3 | Hh | hh | hh |

20
Q
A