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EMS > Lecture 15: Multifactorial diseases > Flashcards

Lecture 15: Multifactorial diseases Flashcards

1
Q

What is Medilian?

A

obeys Mendel’s laws of segregation – dominant, recessive, X-linked

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2
Q

What is meant by the word complex?

A

tends to be used vaguely to describe something with an inherited but non-Mendelian component

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3
Q

What is polygenic?

A

the result of the action of alleles of multiple genes

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4
Q

What is multifactorial?

A

– the result of multiple factors, usually including both genetic and environmental factors

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5
Q

Does a multifactorial disease have a genetic
component?

A

1) Twin Studies
2) Familial clustering

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6
Q

Are multifactorial common or rare?

A

Rare

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7
Q

What is unique about twin studies?

A

Twin studies: genetic characters should have a higher concordance in monozygotic (identical) than dizygotic (non-identical) twins…

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8
Q

What is familial clustering?

A

the clustering of certain traits, behaviours, or disorders within a given family. Family aggregation may arise because of genetic or environmental similarities

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9
Q

Risk of Cancer between twins?

A

Normal rate of cancer = 32%
Non - identical twins risk of cancer = 37%
Identical twins risk of Cancer = 46%

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9
Q

Risk of Cancer between twins?

A

Normal rate of cancer = 32%
Non - identical twins risk of cancer = 37%
Identical twins risk of Cancer = 46%

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10
Q

Risk of hypertension between twins?

A

Normal risk of hypertension = 36%
non identical risk of hypertension = 48%
identical risk of hypertension = 62%

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11
Q

multifactorial inheritance: Congenital malformations?

A

cleft lip/palate, congenital hip dislocation, congenital heart defects, neural tube defects, pyloric stenosis, talipes

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12
Q

Multifactorial inheritance: Acquired diseases of childhood and adult life?

A

asthma, autism, cancer, diabetes mellitus, epilepsy, glaucoma, hypertension, inflammatory bowel disease (Crohn disease), ischaemic heart disease & stroke, bipolar disorder, multiple sclerosis, Parkinson disease, psoriasis, rheumatoid arthritis, schizophrenia

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13
Q

Alzheimer disease key concepts?

A

most common form of dementia >40 yr
symptoms: inability to cope, loss of memory, brain damage
neurology: shrinkage of brain, tangles of b-amyloid protein in nerve fibres of hippocampus

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14
Q

Which haplotype increases susceptibility of Alzheimer’s disease?

A

*E4 haplotype confers increase in susceptibility
early onset at 68 rather than 84

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15
Q

What alleles effect people with Alzheimer’s disease earlier on in their life?

A

E4/E4 homozygotes are affected much earlier than heterozygotes
early onset at 68 rather than 84
risk is increased still further if there is high blood pressure

16
Q

What are the Mapping strategies for Mendelian Vs Multifactorial traits/diseases?

A

Function study
Linkage analysis
Association Study

17
Q

What is the aim of Genetic association studies?

A

Genetic association studies seek to relate variation in human DNA sequence with a disease or trait

18
Q

What is the aim of an association method?

A

Association method provides greater power to detect common genetic variants conferring susceptibility to complex phenotypes

Estimates population attributable risk (effect size)

19
Q

What should control studies match?

A

Controls should match cases and be a representative sample of the population.

20
Q

Example of Control study?

A

100 individuals = 1% affected

21
Q

Example of a patient study?

A

100 individuals = 100% affected

22
Q

What is a single nucleotide polymorphism?

A

A difference at a single nucleotide

23
Q

What are SNPs predominantly?

A

diallelic

24
Q

What can a SNP lead to?

A

Can cause disease (missense, nonsense, regulation)
Can be non-causal markers that tag haplotypes

25
Q

What percentage is SNPs responsible for genetic variation?

A

90%

26
Q

How abundant are SNPs?

A
  • SNPs with MAF ≥ 1% occur on average every 300 bases
27
Q

What have linkage disequilibrium and population association studies lead found?

A

most disease bearing chromosomes in population are descended from one (or a few) ancestral chromosomes
can detect association to <2-3 cM

28
Q

What are the draw back to Linkage disequilibrium and population association studies

A

drawbacks are that careful selection of the control group is essential, large numbers of cases are needed and association may depend on the population history

29
Q

What is Linkage disequilibrium?

A

the occurrence in members of a population of combinations of linked genes in non-random proportions

EMS (54 decks)

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