10 - Genetic Diseases - Type of Genetic Disorder

Question 1

FBN1 gene on chromosome 15

Answer 1

Marfan Syndrome

Question 2

TGFβR2 gene –> regulates production of matrix proteins

Answer 2

Marfan Syndrome II

Question 3

TBX1 required for neural crest differentiation; deletion on chromosome 22

Answer 3

DiGeorge Syndrome (CATCH22)

Question 4

Defect in COL genes or gene PTM (lysol hydroxylase)

Answer 4

Ehlers-Dalos Syndrome

Question 5

COL1A1 gene (null allele)

Answer 5

Osteogenesis Imperfecta (OI)

Question 6

LDL receptor on chromosome 19

Answer 6

Familial Hypercholesterolemia (FH)

Question 7

NF1 gene on chromosome 17 –> neurofibromin

NF1 represses RAS activity

Answer 7

Neurofibromastosis

Question 8

PAX9 exon 4 on chromosome 14

Answer 8

Molar Oligodontia

Question 9

SZ, ZZ genes on SERPINA1 gene on chromosome 14

Serpina1 inhibits neutrophil elastase

Answer 9

Alpha-1 Antitrypsin Deficiency

Question 10

Dystrophin gene on X chromosome

Answer 10

Duchenne Muscular Dystrophy

Question 11

CFTR on chromosome 7-Phe 508 deletion

Answer 11

Cystic Fibrosis

Question 12

DSCR1 (brain, heart), DYKR1a; non-disjunction at 1st meiotic division

Answer 12

Down Syndrome (Trisomy 21)