Genetics

Question 1

Monozygotic twin concordance rate for BPAD

Answer 1

79%

Question 2

Dizygotic twin concordance rate for BPAD

Answer 2

24%

Question 3

Pattern of inheritance in DiGeorge Syndrome

Answer 3

Autosomal Dominant

Question 4

Type of mutation in DiGeorge Syndrome

Answer 4

DELETION SYNDROME. Small deletion on Chromosome 22

Question 5

Short Tandem Repeats are..

Answer 5

Micro-satellites.. repeating 2-4 base pairs

Question 6

What does Aminoacyl Synthetase do?

Answer 6

Enzyme that attaches the end of tRNA molecule to the amino acid.

Question 7

Gene that is linked to early onset Alzheimer’s?

Answer 7

PS1 - Presenilin 1 is a subunit of gamma-secretase, which processes APP.

Question 8

What type of factors involve change in epigenetics?

Answer 8

Changes to histone binding and DNA methylation. No change to underlying DNA.

Question 9

Which type of gene mutation could lead to an almost phenotypically normal downs syndrome?

Answer 9

Mosaicism later in the cell line.

Question 10

Loss of maternal contribution through imprinting leads to which disease..

Answer 10

Angelman’s (Chromosome 15 long arm)

Question 11

Loss of paternal contribution through imprinting leads to which disease..

Answer 11

Prader Willi Syndrome (Chromosome 15 long arm)

Question 12

Which triplet explansion is involved in Fragile X?

Answer 12

CGG > 200. Social anxiety and gaze avoidance. FMR1 gene. Macro-orchidism.

Question 13

Which chromosome is the gene for APP found?

Answer 13

21 - this is why Downs syndrome carries higher chance of Alzheimer’s

Question 14

Gene for late onset Alzheimer’s

Answer 14

APoE - specifically allele E4 dose dependent increases by 3x

Question 15

Genetic mutation in Williams’ syndrome

Answer 15

Microdeletion

Question 16

Both parents have schizophrenia, risk of child having it is…

Answer 16

40%. About 60% for spectrum of schizo disorders.

Question 17

Where is the defective gene for Huntington’s found?

Answer 17

Short arm of chromosome 4

Question 18

Mutation in Cri-du-chat?

Answer 18

Deletion on short arm of chromosome 5

Question 19

Pattern of inheritance in Rett syndrome

Answer 19

X-Linked Dominant

Question 20

Chromosomes involved in BPAD

Answer 20

13 and 22