Flashcards in Genetic Diseases Deck (50)
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1
Those related to mutations in single genes?
mendelian disorders
2
These disorders arise from structural or numerical alterations in chromosomes?
chromosomal disorders
3
These disorders arise from genetic and environmental factors?
polygenic disorders
4
Transmitted from parents through genes?
hereditary
5
Present at birth?
congenital
6
both genes expressed?
codominant
7
multiple forms of alleles?
polymorphism
8
relative tendency to clinically express genotype?
penetrance
9
variations in clinical manifestations?
expressivity
10
many effects from mutation of one gene?
pleiotropy
11
many different genes causing one disease?
heterogeneity
12
examples of autosomal dominant diseases?
Marfan's, neurofibromatosis, familial hypercholesterolemia
13
Marfan's is due to defective extracellular glycoprotein encoded by genes...?
FBN1 or FBN2
14
Which disease? Tall with long extremities/digits, chest deformities, lens abnormalities
Marfan's syndrome
15
Cardiovascular features of Marfans?
mitral valve prolapse, dilation of the ascending aorta (may lead to dissecting aneurysm
16
Which NF? bilateral acoustic neuromas?
type II
17
Which NF? increased risk of developing malignant peripheral nerve sheath tumor
type I
18
Which disease? multiple neurofibromas, cafe-au-lait pigmentation, mental retardation, Lisch nodules
NF1
19
cystic fibrosis: recessive or dominant?
recessive
20
which disease: defective ion transport leading to abnormally viscous secretions that obstruct organ passages?
cystic fibrosis
21
which disease: hypertonic sweat, viscid secretions in the lungs-pulmonary infections, increased pancreatic mucin precipitation-pancreatic insufficiency?
cystic fibrosis
22
Management for which disease: potent antimicrobial therapy, pancreatic enzyme replacement, bilateral lung transplant?
cystic fibrosis
23
phenylketonuria: dominant or recessive?
recessive
24
phenylketonuria is characterized by lack of which enzyme?
phenylalanine hydroxylase (PAH)
25
Which disease: severe mental retardation at 6 months, seizures, decreased pigmentation of hair/skin, mousy odor
phenylketonuria
26
management of phenylketonuria?
dietary restriction of Phe
27
examples of x-linked disorders?
hemophilia, bruton's agammaglobulinemia
28
what hypothesis explains partial expression of x-linked disorders in females?
Lyon hypothesis (barr bodies)
29
2n-1?
monosomy
30
