T5M3 Flashcards

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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?

A

yes

17
Q

Chances of passing on allele that determines colour blindness

A

50%

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?

A

no

25
Q

Recombination of alleles

A

position of gene does not change, relative association of allele does

26
Q

Less recombination frequency in genes distance

A

genes that are closer together

27
Q

Recombination frequency tool

A

used to determine distance between genes along the same chromosome

28
Q

High density linkage maps

A

identify genetic loci that are merely a few thousand base pairs apart

29
Q

GWAS

A

genome wide association study, look across entire SNP-linkage map for association between a phenotype and a mapped SNP