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Genetics > Genetic studies > Flashcards

Genetic studies Flashcards

1
Q

Proportion of genetic material monozygotic twins share

A

100%

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2
Q

Proportion of genetic material dizygotic twins share

A

50%

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3
Q

Within genetic studies, the target person being studied

A

Proband

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4
Q

Method of carrying out family studies where the family history is taken from the proband

A

Family history method

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5
Q

Method of carrying out family studies where the available relatives are directly interviewed to carry out a family history

A

Family study method

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6
Q

Main disadvantage to family history method for family studies

A

Many false negatives

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7
Q

Concordance rate among twins which takes the number of concordant pairs out of all participating pairs e.g. if 10 twin pairs are taking part in a study and 3 are concordant while 7 are discordant the concordance rate is 30%

A

Pairwise concordance rate

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8
Q

Concordance rate among twins which looks at the proportion of proband twins who have a concordant co-twin

A

Proband concordance rate

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9
Q

Hardy Weinberg equation where p is the frequency of the dominant allele and q is the frequency of the recessive allele

A

p² + 2pq + q²= 1

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10
Q

MZ concordance for male alcoholism

A

41%

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11
Q

MZ concordance for female alcoholism

A

34%

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12
Q

MZ concordance for panic disorder

A

24%

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13
Q

MZ concordance for bulimia nervosa

A

23%

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14
Q

MZ concordance for ADHD

A

58%

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15
Q

MZ concordance for autism

A

64%

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16
Q

MZ concordance for Tourette’s syndrome

A

53%

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17
Q

DZ concordance for male alcoholism

A

22%

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18
Q

DZ concordance for female alcoholism

A

31%

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19
Q

DZ concordance for panic disorder

20
Q

DZ concordance for bulimia nervosa

21
Q

DZ concordance for ADHD

22
Q

DZ concordance for autism

23
Q

DZ concordance for Tourette’s syndrome

24
Q

Complete identification of affected individuals in a population

A

Complete case ascertainment

25
Q

Family tree which shows a persons family relationships and family medical history

26
Q

Genogram symbol for a male

27
Q

Genogram symbol for a female

28
Q

Genogram symbol for a person of unspecified sex

29
Q

Genogram symbol for a deceased individual

A

Square/circle/diamond with a line diagonally through

30
Q

Genogram symbol for an affected individual

A

Coloured in shape

31
Q

Genogram symbol for a proband

A

Shape with a small arrow pointing towards it

32
Q

Genogram symbol for a mating couple

A

Single line joining their shapes

33
Q

Genogram symbol for a consanguineous mating couple

A

Double line between their shapes

34
Q

Genogram symbol for dizygotic twins

A

Bunch of cherries shape - line going to each person’s shape from a common point from the generation above

35
Q

Genogram symbol for monozygotic twins

A

Line going to each person’s shape from a common point from the generation above, and also a direct line between the two twins’ shapes

36
Q

Molecular genetic study method where DNA markers are spread out over all 23 pairs of chromosomes and genotyping is carried out among sibling pairs to see how many alleles they share at each locus

A

Sib pair analysis

37
Q

Type of study where a gene is taken from one organism and put into another to monitor its effect

A

Transgenic study

38
Q

Type of study where a gene is taken from one organism and put into another to monitor its effect

A

Transgenic study

39
Q

Term used to separate behavioural phenomena into stable phenotypes with clear heritability

A

Endophenotypes

40
Q

MZ concordance for Alzheimer’s dementia

41
Q

DZ concordance for Alzheimer’s dementia

42
Q

Gene and location associated with CADASIL

A

NOTCH3 - chromosome 19p13.1-13.2

43
Q

Gene and location associated with FTD in patients who have tau protein based changes

A

MAPT gene - chromosome 17q21

44
Q

Gene and location associated with FTD in patients who do not show tau based changes

A

PGRN gene - chromosome 17q21

45
Q

MZ concordance for autism

46
Q

Genogram symbol for a carrier

A

Shape half coloured in

47
Q

Prediction made in the Hardy-Weinberg equation

A

Proportion of the population who are heterozygous carriers for an autosomal recessive condition based on the proportion of the population who are affected

Genetics (9 decks)

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