T5M3 Flashcards

(29 cards)

1
Q

How many pairs of chromosomes in a human cell?

A

23

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2
Q

The pairs of chromosomes in a human cell consists of how many base pairs of DNA?

A

over 3 billion

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3
Q

How many protein coding genes in human genome?

A

estimated over 20 000

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4
Q

More than one gene per chromosome: yes or no?

A

yes

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5
Q

Alleles are linked on a single chromosome meaning they must

A

unlink and recombine in different ways

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6
Q

How many types of sex chromosomes? What are they?

A

2, X and Y

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7
Q

How many genes on Y chromosome? Code for how many proteins?

A

78, code for 25 proteins (half sex)

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8
Q

Non Homologous

A

almost none of the genes in the X chromosome have counterparts in Y chromosome

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9
Q

Sex linked gene

A

a gene on either sex chromosome, expression of phenotype depends on sex of individual

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10
Q

Do Mendel’s principles of inheritance apply to genes on X an Y?

A

no, did not observe in pea plants they have no sex

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11
Q

Ishihara colour test

A

red-green colorblindness, circle filled with dots

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12
Q

Women that are colour blind genotype

A

homozygous for the color blind allele

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13
Q

Male colour blind genotype

A

receives recessive colour blind allele from mother

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14
Q

Hemizygous individual

A

only have one locus for this allele, rule of dominance and recessiveness no longer apply

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15
Q

Hemizygous individual

A

only have one locus for this allele, rules of dominance and recessiveness no longer apply

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16
Q

Will a male show phenotype associated with the one allele they carry on X chromosome?

17
Q

Chances of passing on allele that determines colour blindness

18
Q

Haemophillia

A

blood clotting disorder, X linked recessive trait

19
Q

Mendel’s second law of inheritance tells us that

A

two genes sort independently during gamete formation

20
Q

Chromosome size

A

155 megabases/155m base pairs

21
Q

Dystrophin codes for

A

protein muscle development

22
Q

HPRT1 gene mutation can lead to

A

arthritis, hemophilia, colour blindness

23
Q

Linked genes

A

Genes that are positioned close together on same chromosome

24
Q

Will linked genes always be inherited together?

25
Recombination of alleles
position of gene does not change, relative association of allele does
26
Less recombination frequency in genes distance
genes that are closer together
27
Recombination frequency tool
used to determine distance between genes along the same chromosome
28
High density linkage maps
identify genetic loci that are merely a few thousand base pairs apart
29
GWAS
genome wide association study, look across entire SNP-linkage map for association between a phenotype and a mapped SNP