Genes and chromosomes Flashcards

1
Q

Structure of nucleotide

A

Phosphate group, deoxyribose sugar and nitrogen-containing base

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2
Q

What are the four DNA bases and which pair with which

A

Adenine-thymine, cytosine-guanine

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3
Q

What is the structure of DNA

A

the double helix tightly coiled around proteins called histones

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4
Q

What are the dimensions of DNA coiling

A

the double helix tightly coiled around histones then coils further into super coils and another dimension of coiling enables DNA to be organised in chromosomes.

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5
Q

What is the structure of a chromosome

A

two chromotides joined together at the centromere with kinetochore and telomeres at the end of each chromosome

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6
Q

what are telomeres

A

a series of repeated bases at the end of each chromosome that protects the ends of the chromosomes

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7
Q

what are alleles

A

forms or variations of the same gene

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8
Q

where are genes located

A

alomst all human genes are present in the DNA of the cell nucleus. A small number of genes are present in the DNA of mitochondria (mtDNA) and chloroplasts (cpDNA)

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9
Q

locus

A

plural: loci, the position of a gene on a chromosome

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10
Q

what are genes on the same chromosome called

A

linked genes

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11
Q

how are autosomes distinguished

A

their relative size, the position of the centromere which appears as a constriction along the chromosome and the patterns of light and dark banding that result from staining techniques

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12
Q

what is it called when there is a extra or missing chromosome

A

aneuploidy

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13
Q

when an organism is missing a chromosome

A

monosomy (2n-1)

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14
Q

when an organism has one extra chromosome

A

trisonomy (2n+1)

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15
Q

when an organism has two extra chromosomes

A

tetrasomy (2n+2)

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16
Q

when an organism has an extra set of chromosomes

A

polyploidy

17
Q

cri-du-chat symptoms and cause

A

chromosome 5 deletion, mouth/facial malformations = distinct crying as an infant

18
Q

turners syndrome symptoms and cause

A

X0, one x chromosome is missing. short height, failure of ovaries to develop, heart defects

19
Q

klinefelter syndrome

A

XXY, extra X chromosome, tall, less muscular, broad hips, delayed puberty, less facial hair

20
Q

down syndrome cause and symptoms

A

trisomy 21, distinct eye shape, shorter stature, intellectual disability