Term
| What is the frequency of BB and Bb genotypes if the frequency of the B allele is 70%? |
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Definition
B + b =1
.7 + .3 = 1
(B)(B)=.49...BB = 49%
2(B)(b)=.42...Bb=42% |
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Term
| What is genetic anticipation? |
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Definition
| Severity of disease worsens or age of onset of the disease is earlier in succeeding generations (example: Huntington's disease, Fragile X) |
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Term
What autosomal dominant disease fits the following statement:
A/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm |
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Definition
| Marfan syndrome (fibrillin gene mutation) |
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Term
What autosomal dominant disease fits the following statement:
Associated with mitral valve prolapse, berry aneurysm, liver disease |
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Definition
| Polycystic kidney disease (mutation in PKD1) |
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Term
What autosomal dominant disease fits the following statement:
Neural tumora and pigmented iris hamartomas (Lisch nodules) |
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Definition
| Neurofibromatosis type 1 (von-Recklinghausen's disease) |
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Term
What autosomal dominant disease fits the following statement:
Very strong association with colon cancer |
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Definition
| Familial adenomatous polyposis (APC gene mutation) |
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Term
What autosomal dominant disease fits the following statement:
MI before age 20 |
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Definition
| Familial hypercholesterolemia (defective or abset LDL receptor) |
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Term
What autosomal dominant disease fits the following statement:
Hemangioblastomas of retina/cerebellum/medulla |
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Definition
| von Hippel-Lindau disease (deletion of VHL tumor suppressor gene) |
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Term
What autosomal dominant disease fits the following statement:
Increased MCHC, hemolytic anemia |
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Definition
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Term
What autosomal dominant disease fits the following statement:
Bilateral aucoustic neuromas |
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Definition
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Term
What autosomal dominant disease fits the following statement:
Facial lesions, seizure d/o, cancer risk |
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Definition
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Term
What autosomal dominant disease fits the following statement:
Caudate atrophy, dementia |
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Definition
| Huntington's disease (trinucleotide repeat disorder CAG) |
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Term
What autosomal dominant disease fits the following statement:
Cystic medial necrosis of aorta |
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Definition
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Term
What autosomal dominant disease fits the following statement:
Defect of fibroblast growth factor (FGF3) |
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Definition
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Term
| Which lysosomal storage disease is a/w renal failure |
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Definition
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Term
| What are the only two X linked recessive lysosomal storage diseases |
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Definition
Fabry's disease
Hunter's syndrome
All the rest are AR |
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Term
| What is the most common lysosomal storage disease? |
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Definition
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Term
| Which lysosomal storage diseases is a/w early death (usually before age 3)? |
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Definition
| Tay-Sachs, Neimann-Pick, Krabbe disease |
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Term
| How might corneal clouding and mental retardation help distinguish between the mucopolysaccharidoses? |
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Definition
Hurler's syndrome: Developmental delay, corneal clouding
Hunter's sundrome: no corneal clouding, mental retardation
Scheie's: corneal clouding, no mental retardation |
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Term
| Which lysosomal storage disease is a demyelinating disease? |
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Definition
| Metachromatic leukodystrophy |
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
a-L-iduronidase (accumulation of heparin sulfate, dermatan sulfate) |
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Definition
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
Iduronate sulfatase (accumulation of heparin sulfate, dermatan sulfate) |
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Definition
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
Arylsulfatase A (accumulation of cerebroside sulfate) |
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Definition
| Metachromatic leukodystrophy |
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
a-galactosidase A (accumulation of Ceremide trihexoside) |
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Definition
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
Galactocerebrosidase (accumulation of galactocerebroside) |
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Definition
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
B-glucoserebrosidase (accumulation of glucocerebroside) |
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Definition
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
Hexosaminidase A (accumulation of GM2 ganglioside) |
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Definition
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Term
| What lysosomal storage disease is a/w accumulation of GM2 ganglioside |
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Definition
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Term
| What lysosomal storage disease is a/w accumulation of dermatin sulfate |
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Definition
| Hunter's and Hurler's syndrome |
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Term
| What lysosomal storage diseases are particularly common among Ashkenazi Jews? |
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Definition
| Tay-Sach's, Neimann-Pick, some forms of Gaucher's |
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Term
| What lysosomal storage diseases has the characteristic "crinkled paper cytoplasm" |
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Definition
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Term
| What is the differential diagnosis for cherry red spot on macula |
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Definition
Tay-sach's (-hepatosplenomegaly)
Neimann-Pick (+hepatosplenomegaly)
Central retinal artery occlusion |
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Term
Which lysosomal storage disease is characterized by the following enzyme deficiency:
Sphingomyelinase |
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Definition
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Term
| What is the probability that a female heterozygous for an X-linked disease will pass it on to her son |
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Definition
| 50% (assuming she has a son) |
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Term
| What is the probability that a female heterozygous for an X-linked disease that mates with a normal male will have a carrier daughter? |
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Definition
50% that she will have a daughter
50% that her daughter will be a carrier
.5 x .5=c25% that she will have a daughter that is a carrier |
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Term
| What is the probability that a female carrier of an X-linked disease will have a child with that disease assuming she mates with a normal male |
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Definition
Male: 50%
Female: 0%
Chance that she has a male with the disease is 25% |
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Term
| If aa symbolizes a recessive disease, what is the probability that Aa and Aa will have a phenotypically normal child? |
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Definition
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