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Flashcards in Human genome Deck (60):
1

example of SNP

sickle cell

2

what is the number in karyotype based on?

size

3

types of genotypic and phenotypic variation in humans

- stature
- eye color
- physiology
- drug resposne

4

two mechanisms of genetic variation

- heritable variation
- de novo variation (new)

5

homologous recombination in meiosis

heritable or new variation?

heritable

6

independent assortment of chromosomes in meiosis

heritable or new variation?

heritable

7

spontaneous point mutations

heritable or new variation?

new

8

insertions and deletions

heritable or new variation?

new

9

copy number changes

heritable or new variation?

new

10

Synapsis

- alignment of chromosomes from mom/dad
- physical exchange of chromosomes
- misalignment will see

11

what leads to genetic diversity?

independent assortment

12

region of genome containing a gene

locus

13

alleles at given locus

genotype

14

when does de novo variation occur?

meiosis
germ cells
can occur in somatic but not passed on

15

what is an important source for variation of cancer?

de novo variation in somatic cells

16

mechanisms of de novo variations

- DNA replication errors
- Chromosomal crossing over events

17

which arm is short?

p or q

p

18

which arm is long

p or q

q

19

how many genes are in the genome?

21,000

20

types of variations in genome

- SNP
- insertions/deletions (indels)
- CNV

21

t/f SNPs if present in 1% of population

true

22

where does most methylation occur?

promotor

23

what part of the gene is important in epigenetic?

promotor

24

mutation in coding region of gene

may or may not affect protein
depends on type of mutation

25

are exons coding or noncoding

coding

26

are introns coding or noncoding

non coding

27

how many exons are on a gene?

5

28

how many introns are on a gene?

5

29

where do SNPs occur?

directly in the gene

30

how many chromosomes are 99.5% similar in humans?

2

31

how many SNPs have been catalogued?

3.8 million

32

How many common SNPS does each person have?

3-5 million

33

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

true

34

SNP change in coding region types

synonymous or non-synonymous

35

synonymous SNP

silent
splicing

36

non-synonymous SNP

missense
nonsense

37

noncoding SNP

promoter
splicing
silent

38

change in amino acid SNP

non-synonymous

39

change in nucleotide SNP

synonymous

40

missense mutation

new AA

41

nonsense mutation

stop codon

42

size range of indels

2 bp - 1 kb

43

location of indels

introns, eons, promoters

44

consequence of indels depends on what?

location

45

what percent of the human reference genome is CNV?

5-25%

46

How many CNVs do people have inherited?

1500

47

Location of CNVs

introns
eons
entire genes
intergenic region

48

what is a molecular mechanism to generate CNVs?

NAHR
NHEJ

49

small secreted antimicrobial peptides coded for my DEFB genes

B defensin

50

example of CNV

B defensin

51

Less than 4 B defensin

induce immune response with Crohn's

52

More than 4 B defensin

induce immune response with psoriasis

53

CNV and B defensin

too many or not enough could be bad

54

What do people with high starch diet have more of?

AMY1 copies

55

search genome for SNPs that occur with diseases

GWAS (genome wide association studies)

56

characterize millions of SNPs

haplotype map

57

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

haplotype map

58

what percentage of SNPs are shared amongst ethnic groups

90%

59

SNP database

dbSNP build 132
HapMap

60

How much variation in genome do humans possess?

4 million as SNPs, Indels and CNVs