7a Genes and chromosomes Flashcards

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1
Q

What is the structure of a chromosome?

A

DNA: Chromosomes are composed of DNA molecules, which contain genetic information.
Histones: DNA wraps around histone proteins, forming nucleosomes, which help package the DNA into a compact structure.
Nucleotide: The basic unit of DNA, consisting of a sugar, phosphate group, and a nitrogenous base.

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2
Q

What is DNA?

A

Definition: DNA (Deoxyribonucleic Acid) is the molecule that carries genetic instructions for the development, functioning, growth, and reproduction of all living organisms.
Structure: It consists of two strands forming a double helix, with each strand made up of nucleotides.

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3
Q

What is a nucleotide?

A

Definition: A nucleotide is the basic building block of DNA and RNA.
Components: Each nucleotide consists of a sugar (deoxyribose in DNA, ribose in RNA), a phosphate group, and a nitrogenous base (Adenine, Thymine, Cytosine, Guanine in DNA).

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4
Q

What is a histone?

A

Definition: Histones are proteins that DNA wraps around to form nucleosomes.
Function: They help in packaging DNA into a compact structure and play a role in gene regulation.

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5
Q

What is chromatin?

A

Definition: Chromatin is a complex of DNA and proteins (mainly histones) found in the nucleus of eukaryotic cells.
Function: It packages DNA into a more compact, denser shape, and plays a role in gene regulation and DNA replication.

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6
Q

What is a chromatid?

A

Definition: A chromatid is one-half of a duplicated chromosome.
Function: During cell division, chromatids separate and are distributed to the daughter cells.

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7
Q

What is a centromere?

A

Definition: The centromere is the region of a chromosome that links sister chromatids.
Function: It is essential for the proper distribution of chromosomes during cell division.

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8
Q

What is a gene? Give an example.

A

Definition: A gene is a segment of DNA that contains the instructions for building a specific protein or set of proteins.
Example: The BRCA1 gene is associated with an increased risk of breast cancer.

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9
Q

What is an allele? Give an example.

A

Definition: An allele is a variant form of a gene.
Example: The gene for eye color has different alleles, such as one for blue eyes and another for brown eyes.

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10
Q

What is a genome?

A

Definition: A genome is the complete set of genetic material in an organism, including all of its genes.
Function: It contains all the information needed for the growth, development, and functioning of an organism.

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11
Q

What are homologous chromosomes?

A

Definition: Homologous chromosomes are pairs of chromosomes that have the same structure and carry the same genes, though they may have different alleles.
Function: They pair during meiosis and are important for genetic diversity.

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12
Q

How many homologues are there in human cells?

A

Human cells have 23 pairs of homologous chromosomes, for a total of 46 chromosomes.

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13
Q

What is a gene loci?

A

Definition: A gene loci (plural: loci) is the specific location or position of a gene on a chromosome.
Function: It is used to identify the location of genes within the genome.

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14
Q

What are autosomes?

A

Definition: Autosomes are chromosomes that are not involved in determining the sex of an individual.
Human Example: Humans have 22 pairs of autosomes.

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15
Q

What are sex chromosomes? Give examples.

A

Definition: Sex chromosomes determine the biological sex of an organism.
Examples: In humans, the sex chromosomes are X and Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY).

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16
Q

How do chromosomes vary in size and how are they numbered?

A

Size Variation: Chromosomes vary in size based on the amount of genetic material they carry.
Numbering: They are numbered from 1 to 22 based on size, with chromosome 1 being the largest. The sex chromosomes are labeled as X and Y.

17
Q

What is a karyotype?

A

Definition: A karyotype is the complete set of chromosomes in an individual, displayed in a systematic arrangement.
Use: It is used to study chromosome abnormalities and to determine the chromosome number of an individual.

18
Q

How are chromosomes organized in a karyotype?

A

Organization: Chromosomes are arranged in pairs and ordered by size, from largest to smallest, with the sex chromosomes placed last.

19
Q

How do you see an abnormality in a karyotype? Give an example of a chromosomal abnormality.

A

Detection: Abnormalities can be identified by changes in chromosome number or structure.
Example: Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21.

20
Q

How do you tell the difference between a male and female when looking at a karyotype?

A

By examining the sex chromosomes. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY).

21
Q

Define the term, haploid

A

Definition: Haploid cells contain one complete set of chromosomes.
Example: In humans, gametes (sperm and egg cells) are haploid, containing 23 chromosomes.

22
Q

Define the term, diploid

A

Definition: Diploid cells contain two complete sets of chromosomes, one from each parent.
Example: Human somatic cells are diploid, containing 46 chromosomes.

23
Q

What is the difference between 2n and n?

A

2n (Diploid): Represents cells with two sets of chromosomes.
n (Haploid): Represents cells with one set of chromosomes.

24
Q

What is Polyploidy?

A

Definition: Polyploidy is the condition of having more than two complete sets of chromosomes.
Example: Some plants, like wheat, are polyploid.

25
Q

What is Aneuploidy? How do you recognize aneuploidy in a karyotype?

A

Definition: Aneuploidy is the presence of an abnormal number of chromosomes in a cell.
Recognition: In a karyotype, aneuploidy is seen as extra or missing chromosomes (e.g., trisomy or monosomy).

26
Q

What is trisomy 21 and how does it occur?

A

Definition: Trisomy 21, also known as Down syndrome, is a condition where there are three copies of chromosome 21.
Cause: It occurs due to nondisjunction during cell division, leading to an extra chromosome 21.

27
Q

What is nondisjunction?

A

Definition: Nondisjunction is the failure of chromosomes to separate properly during cell division.
Consequence: It can result in an abnormal number of chromosomes in the daughter cells, leading to conditions like trisomy 21.