Genetics and Diseases

Question 1

BRAF

Answer 1

SNV: T>A, Valine to Glu

Aberrant RAF signalling

Question 2

Xeroderma Pigmentosum

Answer 2

Mutations in NER repair

Question 3

Irish Settlers, Progressive retinal atrophy

Answer 3

SNV –> Nonsense –> protein truncated

Question 4

Huntington’s Disease

Answer 4

Indels: trinucleotide repeat of CAG

Question 5

BRCA

Answer 5

Either Epigenetic or Indel Truncation:

Question 6

CML

Answer 6

Translocation: Philadelphia Chromosome; 9 and 22: Structural variant

Question 7

Friend Murine Leukaemia virus

Answer 7

Integrates and disrupts P53

Question 8

Down Syndrome

Answer 8

Gain of Chromosome 21

De-Novo

Question 9

Ellis Van Creveid Syndrome

Answer 9

Splicing donor/ acceptor issue
Founder effect
RECESIVE

Question 10

Prader Wili Syndrome

Answer 10

Deleting of paternal chromosome 15q

Maternal chromosome is imprinted and silent

Question 11

Apert Syndrome

Answer 11

De-Novo

FGFR signalling: Positive selection advantage for Spem Cells

Question 12

22q11.2 deletion

Answer 12

De-Novo

Question 13

Sickle Cell

Answer 13

Co-Dominance

Affects Hardy Weinberg Equilibrium

Question 14

X linked Diseases

Answer 14

Color Blindness
Duchennes Muscular Dystrophy
Haematophilia
X linked dominant: Vitamin D resistant rickets

Question 15

Sex Chromosome dysjunctions

Answer 15

XXY: Kinefelter Syndrome: Tall, thin, learning impairment
X: Turner Syndrome: Short stature, infertile

Question 16

Beckwith Wiedeman Syndrome

Answer 16

Imprinting disorder:

Fetal overgrowth: Altered dosage of IGF2

Question 17

Hardy Weinberg Equilibrium

Answer 17

p2 + 2PQ + q = 1

P + Q = 1

Question 18

Albinism

Answer 18

Transheterozygotes: Double mutation in OCA gene