Genetic Mechanism Diseases I

Question 1

this disease deals with codominance

Answer 1

alpha1-antitrypsin deficiency

Question 1

deals with incomplete penetrance

Answer 1

BRCA1 (breast cancer)

Question 2

deals with variable expressivity

Answer 2

Neurofibromatosis 1 (NF1)

Question 3

cafe au lait spots*
neurofibromas*
optic glioma*
lisch nodules

Answer 3

neurofibromatosis 1

Question 4

means many tissues/organs are affected

Answer 4

pleiotropy

Question 5

deals with pleiotropy

Answer 5

NF1

Question 6

phenylalanine accumulates and damages CNS

pleiotropy

intellectual disability, eczema, pigment defects*

Answer 6

PKU PAH deficiency

Question 7

deals with pleiotropy and has hyperproliferation in liver and kidneys

Answer 7

voh Hippel-Lindau disease

Question 8

signs and sx’s of disease become more severe at early age from one gene passed on from generation to the next

Answer 8

anticipation

Question 9

disease that deals with anticipation

CAG repeats in HTT gene

Answer 9

huntington’s disease

Question 10

the loss of one parent’s contribution to the cell

Answer 10

loss of heterozygosity

Question 11

deals with loss of heterozygosity

Answer 11

retinoblastoma gene (RB1)

Question 12

deals with vision loss, squinting, enlargement of the eye

Answer 12

RB1

Question 13

deals w/ loss of heterozygosity

colon cancers (not many polyps unlike FAP)

mutations in DNA mismatch repair genes MLH1 and MSH2

Answer 13

Lynch Syndrome

Question 14

deals w/ loss of heterozygosity

loss of function in tumor suppressor protein (TP53)

Answer 14

Li-Fraumeni syndrome (LFS)