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biochem 2 > Multifactorial Disorders > Flashcards

Multifactorial Disorders Flashcards

1
Q

chromsomal and genomic disorders affect what percentage of the poplaution

A

0.38%

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2
Q

single gene disorders affect what percentage of the popluation

A

2%

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3
Q

disorders with multifactorial inheritance affect what percentage of the population

A

60%

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4
Q

the more genes are involved …

A

the lower the probabiliy of an offspring inheriting all or none of the contributing alleles

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5
Q

higher number of genes involved…

A

lower the fraction of extreme phenotypes at the fringes of the bell curve

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6
Q

what do we assume during the analysis of quantitiative traites

A

many genes are invovled with the development of disease

alleles can be contriubting or noncontributing to disaes phenotupes

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7
Q

liability distribtuion

A

bell curve of phenotype distrubtion

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8
Q

threshold of liabity

A

can be differnt for men and women
influenced by environment
once you pass this point you ge tthe disease

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9
Q

recurrene risk is higher than what in multifactorial disorders

A

occurrence risk

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10
Q

is pyloric stenosis imore common in men or women

A

males

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11
Q

why does pyloric stenosis affect more males

A

they need fewer contributing alleles to exxpress the disease

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12
Q

who has a higher risk of an affected sibling with pyloric stenosis, an affected male or female

A

female

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13
Q

falconer’s formula (twins)

A

hertibility H2 = ( concordance MZ- concordance DZ) x 2

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14
Q

concordant trait

A

triat shared by both twins

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15
Q

disease with a signifcant genetic compoentn will show waht

A

high concordance rate in MZ twins than DZ twins

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16
Q

MZ twin

A

identical

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17
Q

linkage analysis

A

mapps an unknown number o fcontributin glici

18
Q

model free linkage analysis

A

insensitive and imprecise but doesn’t amke possible incorrect assupmtions about the number of genes inboled

19
Q

why is model free linkage insensitive

A

needs a very large sample size

20
Q

why is model free linkage imprecise

A

maps the contributing allele to a very alrge chormsomal region

21
Q

incidence

A

how many new cases are recorded in a given time

22
Q

prevalence

A

what proportion of the population has the disease

23
Q

relative risk ratio

A

prevalence of the diseas in r of affeccted person / precvalence in general population

24
Q

what is the risk of multifactorial birth defec ting eneral population

A

0.5

25
Q

what is the risk of multifactorial birth defect in 2nd degree relative

A

0.7 -2%

26
Q

what is the first of multifacotiral birth defect if 1sst degree relative is affected

A

3-4%

27
Q

what is the rist of multifactorial birth defect if 2 first degree relatives are affected

A

5-8%

28
Q

what is the risk of multifactorial birth defect if 3 first degree relatives are affected

A

9-12%

29
Q

what is the risk o fmultifacotiral birth defect if identifcal twin is affected

A

20-30

30
Q

disease association of allele

A

how the allele in question influecnes the risk for the disorder

31
Q

relative risk

A

percentage of people with the allele who develop the trait with the percentage of people without the allele who develope it

32
Q

4 charactersitcs of multifactorial disease tha tset them apart from single gene disorders

A
  • don’t follow mendelian patterns of inheritance
  • familial aggegration
  • incomplete penetrance
  • much more common amoung close relatives than less closely related
33
Q

where is MHC locus found

A

chromsome 6

34
Q

fucntion of MHC class I and II

A

encode cell surface proteins that play role in iniation of immuen resposne

35
Q

HLA gene charactersiti

A

polymorphic

36
Q

how are HLA haplotypes expressed

A

codominat manner

37
Q

if parent and child share 1 haplotype waht is the chance of 2 sibling expressing identical haplotypes

A

25%

38
Q

what types of disease does HLA haplotypes tend to favor

A

immuen system disease

39
Q

what is unqieua bout DR-DQ haplotypes and T1D

A

some are susceptibiliy alleles and some are protective alleles

40
Q

HLA-B haplotypes determine risk for waht

A

spondyloarthropathy

41
Q

HLA-C haplotypes predict risk for what

A

psoriatic arthritis

biochem 2 (22 decks)

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