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biochem exam 6 > Human genome > Flashcards

Human genome Flashcards

1
Q

example of SNP

A

sickle cell

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2
Q

what is the number in karyotype based on?

A

size

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3
Q

types of genotypic and phenotypic variation in humans

A
  • stature
  • eye color
  • physiology
  • drug resposne
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4
Q

two mechanisms of genetic variation

A
  • heritable variation

- de novo variation (new)

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5
Q

homologous recombination in meiosis

heritable or new variation?

A

heritable

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6
Q

independent assortment of chromosomes in meiosis

heritable or new variation?

A

heritable

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7
Q

spontaneous point mutations

heritable or new variation?

A

new

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8
Q

insertions and deletions

heritable or new variation?

A

new

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9
Q

copy number changes

heritable or new variation?

A

new

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10
Q

Synapsis

A
  • alignment of chromosomes from mom/dad
  • physical exchange of chromosomes
  • misalignment will see
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11
Q

what leads to genetic diversity?

A

independent assortment

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12
Q

region of genome containing a gene

A

locus

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13
Q

alleles at given locus

A

genotype

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14
Q

when does de novo variation occur?

A

meiosis
germ cells
can occur in somatic but not passed on

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15
Q

what is an important source for variation of cancer?

A

de novo variation in somatic cells

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16
Q

mechanisms of de novo variations

A
  • DNA replication errors

- Chromosomal crossing over events

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17
Q

which arm is short?

p or q

A

p

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18
Q

which arm is long

p or q

A

q

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19
Q

how many genes are in the genome?

A

21,000

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20
Q

types of variations in genome

A
  • SNP
  • insertions/deletions (indels)
  • CNV
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21
Q

t/f SNPs if present in 1% of population

A

true

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22
Q

where does most methylation occur?

A

promotor

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23
Q

what part of the gene is important in epigenetic?

A

promotor

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24
Q

mutation in coding region of gene

A

may or may not affect protein

depends on type of mutation

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25
Q

are exons coding or noncoding

A

coding

26
Q

are introns coding or noncoding

A

non coding

27
Q

how many exons are on a gene?

A

5

28
Q

how many introns are on a gene?

A

5

29
Q

where do SNPs occur?

A

directly in the gene

30
Q

how many chromosomes are 99.5% similar in humans?

A

2

31
Q

how many SNPs have been catalogued?

A

3.8 million

32
Q

How many common SNPS does each person have?

A

3-5 million

33
Q

t/f effect of SNPs depends on sequence, location, heterzyogous/homo, dominant/reccessive

A

true

34
Q

SNP change in coding region types

A

synonymous or non-synonymous

35
Q

synonymous SNP

A

silent

splicing

36
Q

non-synonymous SNP

A

missense

nonsense

37
Q

noncoding SNP

A

promoter
splicing
silent

38
Q

change in amino acid SNP

A

non-synonymous

39
Q

change in nucleotide SNP

A

synonymous

40
Q

missense mutation

A

new AA

41
Q

nonsense mutation

A

stop codon

42
Q

size range of indels

A

2 bp - 1 kb

43
Q

location of indels

A

introns, eons, promoters

44
Q

consequence of indels depends on what?

A

location

45
Q

what percent of the human reference genome is CNV?

A

5-25%

46
Q

How many CNVs do people have inherited?

A

1500

47
Q

Location of CNVs

A

introns
eons
entire genes
intergenic region

48
Q

what is a molecular mechanism to generate CNVs?

A

NAHR

NHEJ

49
Q

small secreted antimicrobial peptides coded for my DEFB genes

A

B defensin

50
Q

example of CNV

A

B defensin

51
Q

Less than 4 B defensin

A

induce immune response with Crohn’s

52
Q

More than 4 B defensin

A

induce immune response with psoriasis

53
Q

CNV and B defensin

A

too many or not enough could be bad

54
Q

What do people with high starch diet have more of?

A

AMY1 copies

55
Q

search genome for SNPs that occur with diseases

A

GWAS (genome wide association studies)

56
Q

characterize millions of SNPs

A

haplotype map

57
Q

what lead to a greater understanding of human variation and how it contributes to health and disease?

A

haplotype map

58
Q

what percentage of SNPs are shared amongst ethnic groups

A

90%

59
Q

SNP database

A

dbSNP build 132

HapMap

60
Q

How much variation in genome do humans possess?

A

4 million as SNPs, Indels and CNVs

biochem exam 6 (3 decks)

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