Recessive or Dominant?

Question 1

Achondroplasia

Answer 1

Dominant

mutation in FGFR3- causes dwarfism

Question 2

FAP

Answer 2

dominant

mutation in APC

Question 3

familial hypercholesterolemia

Answer 3

dominant

defective or absent LDL receptor

Question 4

Li-Fraumeni

Answer 4

dominant
mutation in p53- early cancers
SBLA- sarcoma, breast, leukemia, adrenal

Question 5

Marfan

Answer 5

dominant

mutation in fibrillin- scaffold for elastin

Question 6

MEN

Answer 6

dominant
MEN1- mutation in MEN1 gene
MEN2A/B- mutation in RET

Question 7

NF1

Answer 7

dominant- chrom. 17

cafe-au-lait, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules (pigmented iris hamartomas),

Question 8

NF2

Answer 8

dominant- chrom 22

bilateral acoustic scchwannomas, juvenile cataracts, meningiomas, ependymomas

Question 9

Tuberous Sclerosis

Answer 9

dominant

numerous benign hamartomas

Question 10

VHL

Answer 10

dominant

deletion of VHL gene (tumor suppressor)

Question 11

cystic fibrosis

Answer 11

A. Recessive
defect in CFTR gene
(men lack vas!)

Question 12

x-linked recessive: Oblivious Female Will Often Give Her Boys Her x-Linked Disorders:

Answer 12

Ornithine Transcabamylase Deficiency
Fabry
Wiskott-Aldrich
Ocular Albinism
G6PD
Hunter
Bruton Agammaglobulinemia
Hemophila A and B
Lesch-Nyan
Duchenne (and Becker)

Question 13

Kartagener

Answer 13

A. Recessive

immotile cilia due to dynein arm defect

Question 14

Wiskott aldrich

Answer 14

X-linked Recessive:
B and T cell disorder
WATER: wiskott-aldrich, thrombocytopenia, eczema, recurrent infection
decreased IgG and IgM.