Genetics

Question 1

Inheritance pattern of PKU

Answer 1

Autosomal recessive

Question 2

Inheritance pattern of maple syrup urine disease?

Answer 2

Autosomal recessive

Question 3

Imprinting

Answer 3

Offspring’s genes are expressed in a parent specific manner. Caused by DNA methylation

Question 4

Common conditions with polygenic inheritance

Answer 4

Androgenetic alopecia, epilepsy, glaucoma, HTN, ischemic heart disease, schizophrenia, type II diabetes mellitus

Question 5

Individuals with which HLA type are at increased risk for seronegative spondyloarthropathies

Answer 5

HLA B27

Question 6

Cause of Fragile X Syndrome

Answer 6

Increased number of CGG trinucleotide repeats on the FMR1 gene on the long arm of X chromosome. Leads to hypermethylation and inactivation of FMR1

Question 7

Chediak-Higashi Syndrome

Answer 7

Aut. recessive disorder of neutrophil phagosome lysosome fusion that results in neuro abnormalities, partial albanism and an immunodeficiency caused by defective neutrophil fxn

Question 8

Von Hippel-Lindau disease

Answer 8

Autosomal dominant. Capillary hemangioblastomas in the retina and/or cerebellum, congenital cysts and/or neoplasms in the kidney, liver, and pancreas. Pts are at increased risk for renal cell carcinoma, which can be bilateral

Question 9

Von Recklinghausen’s disease

Answer 9

NF1. Inherited peripheral nervous system tumor syndrome. Neurofibromas, optic nerve gliomas, Lisch nodules, and cafe au lait spots

Question 10

NF2

Answer 10

Autosomal dominant nervous system tumor syndrome. Bilateral cranial nerve VII schwannomas and multiple meningiomas

Question 11

Tuberous sclerosis

Answer 11

Autosomal dominant. Cutaneous angiofibromas, visceral cysts, hamartomas, seizures

Question 12

Osler-Weber-Rendu syndrome

Answer 12

Autosomal dominant inheritance of congenital telangiectasias. Rupture may cause epistaxis, GI bleeding, hematuria