Biochemistry

Question 1

X-linked recessive disorders

Answer 1

Bruton Agammaglobulinemia
Wiskott-Aldrich syndrome
Fabry disease
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne and Becker Muscular Dystrophy
Hunter Syndrome
Hemophilia A & B
Ornithine transcarbamylase deficiency

Question 2

Fragile X syndrome affects this gene

Answer 2

FMR1 gene - trinucleotide repeat disorder CGG

Question 3

Huntington disease
Myotonic dystrophy
Friedrich ataxia
Fragile X syndrome

Answer 3

Trinucleotide repeat expansion diseases

Question 4

Becker Muscular dystrophy

Answer 4

X-linked disorder
non-frameshift insertions in dystrophin gene
onset in adolescence or early adulthood

Question 5

X-linked disorder
frameshift in dystrophin gene (deletion, duplication, nonsense)
onset before age 5
dilated cardiomyopathy most common cause of death

Answer 5

Duchenne muscular dystrophy

Question 6

Autosomal dominant
CTG trinucleotide repeat expansion
Abnormal expression of myotonin protein kinase (myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia, thyroid dysfunction)

Answer 6

Myotonic dystrophy type I

My-tonia, My-testicles, My-toupee, My-ticker

Question 7

Promoters of transcription

Answer 7

CAAT box
TATA (Hogness) box

Act as binding sites for promoters of transcription and RNA polymerase

Question 8

Transcription enhancers…

Answer 8

facilitate bending of DNA, may be located near or far from gene being transcribed (upstream or downstream)

Question 9

Start codon sequence

Answer 9

AUG

Question 10

Stop codon sequences

Answer 10

UAG
UAA
UGA

Question 11

Transcription and translation occur in the ____________ direction

Answer 11

5’ to 3’