USMLE Tutorial Questions:

1.

Galactesemia, an inability to metabolise galactose, results from a def of the

enyme gal-1 phosphate unidytransgerase
The table shown summarizes the genotypes and phenotypes of this locus. Show
less than normal activity of enzyme?
.. D and g (decreased enyme activity of )

1.

During an investigation: Study 50 people are assayed for a 4 allele polymorphism

and the following geno counts are obtained
.. Which are the gene freq of alleles 1 and 2?
1.
100
2.
Count up number of alleles there are 4(2) + 8 + 3=19 in allele 1(0.19 , 0.1$)

1.

In the pedigree shown what is the probability that IV-3 is a carrier of this trait?? 2/3 Autosomal recessive (any recessive disease a sibling will always have 2/3 risk of
being (both parents must be carriers if 2 children affected) carriers
1.
Out of unaffected indiv 2/3

A 25yr old woman with mild hemophilia is found to be heterozygous carrier of a mut in
the x linked factor 7 gene Which of the following explains genetic basis for mut
expression of disease? = increased proportion of the x chrom carrying the mut are
active (nonrandom x inactivation*)
- (sry gene irrelevant and x inactiv does affect entire chrom)

Hitchhikers thump (distal hyperextensive of the thumb) is AR trait. In pop 1/100 indiv
have it.. How many carriers? - 9/100?
1.
Calculating gene frequencies
2.
Population genetics
3.
P + q = 1 (Hardy weinberg conditions) in large pop and random
mating, the genotypic freq is stable
4.
P2 + 2pq + q2
o

Q 2= 1/100 =
2

aa

Q = 1/10 (.1)

AA

18/100!!!! answer

Looking for 2PQ

2pq - carrier freq
Mutated is Q
P is norm

A 26 month boy is brought to physician by parents because he has poor

eye contact, flapping hands and chews on them.. Delays facial, motor and language skills
Long narrow face, large early, flat feet. = expanded tri repeat

48 man memory loss over years. Personality changes.. Abnormal

writhing movements of limbs, hyperreactive reflexes loss of neostraitum and
cortex. Pedigree?
1.
Diag: Huntingtons disease (ad) ==== A most likely (c possible)

22 man .. Lumps on skin, multiple nodules below skin, pigmented iris

nodules and numerous tan macules on skin father and uncle had similar.
Inheritance?
1.
Diagnosis: Neurofibrotosis = AUTOSOMAL DOM

45 man with history of mental retard.. Brought to emergency with fever,

chills, cough 5 days dies . Neurotic plaques and neurofibrillary tangles.. Cause of
mental?.....Down Syndrome

31 woman, 22 weeks gestation b/c premature contractions and vaginal

bleeding, spontaneous abortion. 3 other preg same..mature fetal tissue with barr bodies
C - Klinefelter syndrome (47, XXY)?? (why if woman?) barr found on extra x

6 year old sickle cell disease girl to routine. More common in African
American than in Caucasian race. = natural selection (carrier rate higher)

Male newborn, small head and eyes and six fingers. 2nd
echrocardiogram..Multiple congenital heart defects Trisomy 13

5 yr boy diag with DMD no other family members have disease. - a

recombination event in dystrophin gene give rise to frameshift mut leading to
unstranslatable mRNA
1.
Dystrophin largest gene.. Allow for recombination (=frameshift)

5yr boy yellow soft slight bump n eyelids.. Hypercholest.. Chol of over
850, child has normal partner, their child have hyperchol??
1.
1/1 because he is homozygous so he def will have a child with it