Genetics Unit Test Bio Flashcards

1
Q

Somatic Cells

A

These are all the cells in your body except sperm and egg cells. Examples include skin cells, liver cells, and brain cells. They are diploid (2n), meaning they carry two complete sets of chromosomes (one from each parent). Somatic cells undergo mitosis for growth and repair.

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2
Q

Gametic Cells (Gametes)

A

These are reproductive cells — sperm in males, and eggs in females. They are haploid (n), carrying only one set of chromosomes. When a sperm fertilizes an egg, the resulting zygote becomes diploid again.

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3
Q

Germ Cells

A

Found only in the reproductive organs (testes and ovaries), germ cells are diploid cells that divide via meiosis to create gametes. They act as the precursors to gametes

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4
Q

stem cells

A

Undifferentiated cells that have the potential to become many different types of specialized cells. They play a role in development and repair. Types include embryonic stem cells (pluripotent), adult stem cells (multipotent), and induced pluripotent stem cells (iPSCs), which are adult cells reprogrammed to act like embryonic ones.

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5
Q

Identify/illustrate the structure of a chromosome

A

A chromosome is a tightly packed bundle of DNA found in the nucleus of a cell. Each consists of:

Chromatids: When duplicated, chromosomes consist of two identical chromatids (sister chromatids) joined at a centromere.

Centromere: Region that joins sister chromatids.

Telomeres: Protective caps at each end of the chromosome that prevent DNA degradation.

DNA is wound around proteins called histones to form chromatin, which coils tightly into chromosomes during cell division.

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6
Q

purpose of mitosis

A

-Grow by increasing the number of cells.
-Repair damaged or old tissues.
-Replace dead cells.

it produces 2 genetically identical daughter cells

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7
Q

explain and illustrate the process of mitosis

A

Prophase:
Chromatin condenses into chromosomes, spindle fibers form, and the nuclear envelope begins to break down.

Metaphase:
Chromosomes align at the center of the cell (metaphase plate), attached to spindle fibers.

Anaphase:
Sister chromatids are pulled apart to opposite poles of the cell.

Telophase:
Nuclear envelopes reform around each set of chromosomes, which begin to uncoil.

Cytokinesis:
The cytoplasm divides, creating two identical daughter cells.

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8
Q

explain how cancer occurs

A
  • Regulation of the cell cycle occurs through a complex network of signals in the cell. Something that interferes with these signals could result in uncontrolled growth.
  • cancer is the result of uncontrolled, rapid cell division. Cancerous cells progress quickly from one cell division to the next, resulting in a mass of cells, called a tumour.
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9
Q

Explain the different types of stem cells, where they are found, why they are important, and ethical dilemmas

A

Stem cells are undifferentiated (unspecialized) cells that, under the
right conditions, can develop into any one of the more than 200 types of somatic cells.

Embryonic Stem Cells: Pluripotent
obtained from embryos

Adult Stem Cells: (totipotent)
somatic cells that have retained the ability to differeniate into other cell types.

induced pluripotent stem cells, which are specialized adult stem cells that have been induced to return to a stem-cell-like state

ethical dilemmas:
-destroying embryos for research
-concerns about “playing god” or designing babies
-risk of human cloning misuse

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10
Q

Explain and illustrate the process of meiosis and chromosome count at each stage

A
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11
Q

explain oogenesis

A

-
-occurs in females ovaries
-before brith; pauses at prophase 1 until puberty
-involves unequal cytoplasmic division
-results in 1 viable egg (from the larger cell) (ovum) and 3 polar bodies (non-functional)
-The egg contains nutrients to support the zygote.
-The smaller cell becomes the polar body and degenerates.
-Meiosis II is completed only after fertilization.
-A mature egg and another polar body are produced after meiosis II.
-The egg’s haploid nucleus fuses with the sperm’s haploid nucleus, forming a diploid zygote.

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12
Q

explain spermatogenesis

A

-occurs in testes, starts at puberty and continues throughout life
-a single germ undergoes meiosis to produce 4 equal-sized sperm cells
-the process is continuous and rapid

  • Spermatogenesis starts with a diploid spermatogonium.
  • At puberty, spermatogonia divide by mitosis, producing cells that undergo meiosis.
  • Meiosis forms four haploid cells.
  • After meiosis II, cells go through development to become mature sperm.
  • The nucleus and essential molecules form the sperm’s “head.”
  • The midsection contains mitochondria for energy.
  • A tail (flagellum) develops for movement.
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13
Q

determine the haploid if given the diploid number

A

Just divide the diploid number by 2.
Example: If 2n = 46, then n = 23.

Haploid cells are gametes.

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14
Q

Identify scientists who discovered DNA structure

A

Watson and Crick: Proposed the double helix model.

Rosalind Franklin: Took X-ray images (Photo 51) that revealed DNA’s structure. cystalized something

Chargaff: Discovered base pairing rules (A=T, C=G).

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15
Q

compare DNA mutations

A

Deletions
Insertions
Inversions
Translocations

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16
Q

Define nitrogenous base, complementary base pair, sugar-phosphate backbone, histone, and nucleotide

A

Nitrogenous Base: Part of DNA; includes A, T, C, G.

Complementary Base Pair: A pairs with T, C with G via hydrogen bonds.

Sugar-Phosphate Backbone: Framework that supports DNA strands.

Histone: Protein DNA wraps around to form chromatin.

Nucleotide: Basic unit of DNA—sugar, phosphate, and base.

17
Q

Where, when, and how genetic shuffling occurs in meiosis

A

When: Prophase I and Metaphase I.

Where: In germ cells undergoing meiosis.

How:

Crossing Over: Exchange of DNA between homologous chromosomes.

Independent Assortment: Random alignment of chromosomes.

Random Fertilization adds even more variation.

18
Q

Read and analyze a karyotype

A

Trisomy (3 copies, e.g., Down syndrome - trisomy 21, trisomy 12-Klinefelter syndrome, trisomy 18- Edwards syndrome)

Monosomy (1 copy) (monosomy x- turner syndrome)

Sex chromosome anomalies (XXY, X0) (xxy- Klinefelter syndrome)

19
Q

Define autosomal chromosome

A

Chromosomes 1–22 (not involved in determining sex).

20
Q

Chromosomal mutations

A

Monosomy: One chromosome instead of two.

Trisomy: Extra chromosome.

Ex.
Trisomy 21: Down Syndrome.

Trisomy 18: Edwards Syndrome.

XXY: Klinefelter’s Syndrome.

21
Q

tools used to detect genetic mutations

A

-karyotyping
-bloodwork (readings)
-dna sequencing
-genetic screening/panel testing

22
Q

Difference in translocation in Meiosis I vs II

A

Meiosis I: both resulting cells are affected. Affects homolog pairing, can prevent separation.

Meiosis II: Affects chromatids, more subtle but still harmful. 2 of haploid cells are affected.

23
Q

Artificial Insemination, IVF, Selective Breeding, Embryo Transfer

A

Artificial Insemination: sperm are collected and concentrated before being introduced into the female’s reproductive system

IVF: technique used to fertilize egg cells outside the female’s body

Selective Breeding: of breeding plants and animals for desirable traits

Embryo Transfer: an egg that has been fertilized artificially is transferred into a recipient female’s uterus.

24
Q

Explain the difference between the law of segregation and the law of independent assortment. Can I illustrate the difference?

A

Law of Segregation (1st Law of Inheritance):

Each individual has two alleles for each gene (one from each parent).

During gamete formation, these alleles separate so that each gamete only gets one allele.

Illustration: In a monohybrid cross (Aa x Aa), the alleles A and a segregate during meiosis, and the offspring can inherit any combination (AA, Aa, or aa).

Law of Independent Assortment (2nd Law):

Genes on different chromosomes assort independently during gamete formation.

The inheritance of one gene does not affect the inheritance of another.

Illustration: In a dihybrid cross (RrYy x RrYy), alleles for R/r and Y/y separate independently, producing combinations like RY, Ry, rY, ry.

25
Explain what the uses of pedigree charts are
Pedigree charts are diagrams that show family history of a trait and are used to: Track inheritance patterns across generations. Determine whether a trait is dominant, recessive, or sex-linked. Identify carriers of genetic conditions. Assist in genetic counseling and predicting offspring probabilities.
26
Analyze a pedigree and determine genotypes (recessive, dominant, x-linked)
Dominant Trait: -affected individuals have at least one affected parent -the phenotype generally appears every generation -two unaffected parents only have unaffected offspring Recessive Trait: -unaffected parents can have affected offspring -affected progeny are both male and female X-linked Trait: -More males affected than females. -No male-to-male transmission. -Carrier females can pass the trait to sons. Example: If a daughter has a trait but the mother doesn’t, and the trait is recessive, the father must carry the trait (for X-linked traits).
27
Analyze a pedigree and determine relationships between each individual
28
Draw a pedigree using correct symbols and determine identifying numbers
29
Explain why inbreeding is genetically dangerous
Inbreeding increases the likelihood that offspring will inherit identical alleles from both parents, especially recessive mutations. This can lead to: Higher rates of genetic disorders Reduced genetic diversity Weakened immune systems Lower survival and fertility rates
30
Correctly solve Mendelian trait problems (Monohybrid & Dihybrid crosses)
31
Explain what a test cross is using a Punnett Square
method used to determine the genotype of an organism that has a dominant phenotype
32
Solve non-Mendelian problems (Incomplete dominance, codominance, multiple alleles, X-linked)
Incomplete Dominance: Heterozygous shows a blend. Red (RR) + White (WW) → Pink (RW) Codominance: Both alleles fully expressed. Example: Black chicken (BB) + White (WW) → BW (black and white feathers) Multiple Alleles: More than two allele options. Example: Blood type (IA, IB, i) X-linked: Trait on X chromosome. Male (XY) only needs one copy to show the trait. Female (XX) needs two copies to express recessive X-linked trait.
33
Explain how human blood type is inherited using a Punnett Square
34
Explain why X-linked traits appear in males more often
Males are XY, so they only have one X chromosome. If that X carries a recessive mutation, it will be expressed because there is no second X to mask it. Females (XX) can be carriers without showing symptoms. ex. color blindness, hemophilia
35
Determine the uses of therapeutic cloning
Therapeutic cloning creates embryonic stem cells genetically identical to a patient. Used to: Grow tissues/organs for transplants Repair spinal cord injuries Treat diseases like Parkinson’s, diabetes Reduce rejection risk because the cells match the patient’s DNA
36
Explain why bioinformatics & genetic profiling are important
-Bioinformatics helps analyze complex genetic data using computers. -Identifies genes linked to diseases. -Supports development of personalized treatments. -Genetic profiling detects inherited disorders and disease risks. -Used in forensics to identify individuals (e.g. crime scenes). -Helps guide medical decisions and early diagnosis. -Both are essential for improving healthcare and advancing medical research.
37
Explain some ethical dilemmas associated with modern genetics
Genetic Discrimination: Employers or insurers using genetic info to deny opportunities. Privacy: Who owns your genetic data? Designer Babies: Modifying embryos for traits like intelligence or appearance. Cloning: Raises questions about identity, humanity, and consent. Gene Editing (CRISPR): Potential to cure diseases, but also risk of unintended consequences or “playing God.”
38