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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
Family tree which shows a persons family relationships and family medical history
Genogram
26
Genogram symbol for a male
Square
27
Genogram symbol for a female
Circle
28
Genogram symbol for a person of unspecified sex
Diamond
29
Genogram symbol for a deceased individual
Square/circle/diamond with a line diagonally through
30
Genogram symbol for an affected individual
Coloured in shape
31
Genogram symbol for a proband
Shape with a small arrow pointing towards it
32
Genogram symbol for a mating couple
Single line joining their shapes
33
Genogram symbol for a consanguineous mating couple
Double line between their shapes
34
Genogram symbol for dizygotic twins
Bunch of cherries shape - line going to each person's shape from a common point from the generation above
35
Genogram symbol for monozygotic twins
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
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
Sib pair analysis
37
Type of study where a gene is taken from one organism and put into another to monitor its effect
Transgenic study
38
Type of study where a gene is taken from one organism and put into another to monitor its effect
Transgenic study
39
Term used to separate behavioural phenomena into stable phenotypes with clear heritability
Endophenotypes
40
MZ concordance for Alzheimer's dementia
84%
41
DZ concordance for Alzheimer's dementia
40%
42
Gene and location associated with CADASIL
NOTCH3 - chromosome 19p13.1-13.2
43
Gene and location associated with FTD in patients who have tau protein based changes
MAPT gene - chromosome 17q21
44
Gene and location associated with FTD in patients who do not show tau based changes
PGRN gene - chromosome 17q21
45
MZ concordance for autism
64%
46
Genogram symbol for a carrier
Shape half coloured in
47
Prediction made in the Hardy-Weinberg equation
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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