Multifactorial Diseases Flashcards

1
Q

What does the threshold of liability indicate/?

A

how many contributing alleles are required for a patient to be affected by a disease

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2
Q

What is a concordant trait?

A

a trait shared by both twins

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3
Q

What is a discordant trait?

A

a trait not shared by twins

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4
Q

What does high heritability indicate?

A

that a disease is mainly determined by genetic factors

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5
Q

What is incidence?

A

describes how many new cases are recorded in a given time

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6
Q

What is prevalence?

A

describes the proportion of the population that is affected by the disease at any given time

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7
Q

What are the most common genetic diseases?

A

multifactorial inheritance

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8
Q

How can one estimate the number of genes involved in a multifactorial disease?

A

shape of bell curve

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9
Q

Regarding a multifactorial disease, the higher number of genes involved does what to the shape of the bell curve?

A

lower the fraction of extreme phenotypes

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10
Q

What is a liability distribution?

A

shape of bell curve of phenotypes for multifactorial diseases

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11
Q

Why does the recurrence risk of a multifactorial disease increase with each diagnosis of a relative?

A

more disease contributing alleles likely present

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12
Q

Which sex is more likely affected by pyloric stenosis?

A

male

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13
Q

Which sex requires fewer contributing alleles to develop pyloric stenosis?

A

males

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14
Q

If a female develops pyloric stenosis, what does this mean for the number of contributing alleles she possesses?

A

she likely has a larger number

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15
Q

What is a concordant trait?

A

a trait shared by two twins

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16
Q

What is the term for a trait not shared by twins?

A

discordant

17
Q

What is the equation for heritability?

A

(concordance MZ - concordance DZ)*2

18
Q

What is incidence?

A

how many new cases are recorded in a given time divided by the size of the population

19
Q

What is prevalence?

A

proportion of population that is affected at any given time

20
Q

What is the equation for relative risk ratio?

A

prevalence of disease of relatives / prevalence of the disease in the general population

21
Q

Do multifactorial diseases follow Mendelian inheritance?

A

No

22
Q

Do multifactorial diseases show complete or incomplete penetrance?

A

incomplete

23
Q

On what chrmosome is the MHC gene found?

A

chromosome 6

24
Q

What are MHC class I and II genes involved in?

A

initiating immune response

25
Q

How are HLA genes transmitted? Why is this?

A

as a whole unit

very little meiotic recombination

26
Q

What is a compound heterozygote?

A

two mutant alleles are not identical

27
Q

What is the genetic transmission of the HLA genes classified as?

A

haplotype

28
Q

How are the HLA haplotypes expressed?

A

co-dominant

29
Q

What is the percentage of MHC haplotypes shared by parent and child?

A

half

30
Q

What are the changes of two siblings sharing identical haplotypes?

A

25%

31
Q

In order to find an organ donor, what must one do?

A

match the HLA haplotypes

32
Q

What haplotype affects T1D?

A

DR-DQ

33
Q

What is HLA-B associated with?

A

Spondyloarthropathy

34
Q

What is HLA-C associated with?

A

Psoriatic Arthritis