Chromosomes and Genes

Question 1

Autosomal dominant nocturnal frontal lobe epilepsy

Answer 1

CHRNA2, CHRNA4, CHRNB2

Question 2

CADASIL

Answer 2

Chromosome 19 (NOTCH 3)

Question 3

Which genes are involved in familial forms of PD?

Answer 3

PARK1: a-synuclein, AD, young onset
PARK2: parkin, ubiquitin E3 ligase, AR, juvenile onset
LRRK2, PARK8: leucine-rich repeat kinase 2, AD, one of most common causes of familial PD

Question 4

Chromosome involved in Friedrich’s ataxia?

Answer 4

Chromosome 9: GAA repeat, frataxin gene, AR

Question 5

Chromosome involved in the most common form of spinocerebellar ataxia?

Answer 5

Chromosome 14: SCA 3/Machado-Joseph disease, CAG repeat

Question 6

Chromosome involved in Fragile X syndrome?

Answer 6

X chromosome: CGG repeat

Question 7

Familial AD is associated with which chromosomes and genes?

Answer 7

Chromosome 1: presenilin-2, early-onset familial AD
Chromosome 14: presenilin-1, early-onset familial AD
Chromosome 19: apolipoprotein E4, triples risk of AD
Chromosome 21: amyloid-precursor protein (APP), senile AD

Question 8

What is the most common chromosome involved in familial FTD?

Answer 8

Chromosome 17

Question 9

What chromosome is involved in HD?

Answer 9

Chromosome 4: CAG repeat

Question 10

DMD and BMD

Answer 10

X-linked Recessive: dystrophin gene

Question 11

FSHD1

Answer 11

Chromosome 4: contraction D4ZR leads to incomplete suppression of DUX4 retrogene

Question 12

Oropharyngeal Muscular Dystrophy

Answer 12

Chromosome 14: GCG repeat in PABPN1 gene

Inheritance: AD

Question 13

Myotonic Muscular Dystrophy 1

Answer 13

Chromosome 19: CTG repeat in dystrophin myotonica protein kinase gene (DMPK)

Question 14

Myotonic Muscular Dystrophy 2

Answer 14

Chromosome 3: CCTG repeat in zinc finger protein 9 gene (ZNF9)