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FA genetics/ Biochem > Concepts > Flashcards

Concepts Flashcards

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Biology 101 flashcards
1
Q

Individual with Recessive disorder with only One parent that is a carrier? Heterozygous indicates error occurred? Homozygous?

A

Uniparental disomy= Receive 2 copies of a chromosome form 1 parent
Hetero= Meiosis 1
Homo= Meiosis 2

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2
Q

Hardy Weinberg equation?

A

p2 + 2pq + q2 = 1

p + q = 1

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3
Q

mutation that leads to a nonfunctional altered protein prevents the normal gene form functioning?

A

Dominant negative mutation

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4
Q

Mutations at different loci can produce same phenotype? examples?

A

Locus heterogeneity

Marfan + Homocystinuria + MEN 2B == Marfanoid habitus

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5
Q

Presence of both normal and mutated mtDNA resulting in variable expression in inherited disease?

A

Heteroplasmy

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6
Q

One gene contributes to multiple phenotypic changes?

A

Pleiotropy

PKU = retardation, hair/skin changes

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7
Q

Pt with large head and short limbs, normal trunk has what mutation associated with Advanced Paternal Age?

A

Achondroplasia= FGF receptor 3 mutation

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8
Q

AD disease in pt with Achilles xanthomas + MI b4 20yo. Mutation?

A

Familial hypercholesterolemia= LDL receptor def

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9
Q

AD dz of blood vessels with telangiectasia, recurrent epistaxis, skin discolorations, AVMs?

A

Osler-Weber Rendu syndrome (hereditary hemorrhagic telangiectasia)

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10
Q

Defect in fibrillin gene is associated with what findings?

A

Marfans= Tall/long, Cystic medial necrosis, MVP, UPWARD Subluxation of lenses, scoliosis/kyphosis

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11
Q

MEN 2A/2B are associated with what gene?

A

ret gene mutation

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12
Q

NF1 findings?

A

Chromosome 17
Lisch nodules (IRIS hamartomas)
Optic Gliomas
Scoliosis

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13
Q

NF 2 findings?

A

Ch 22
BL acoustic shwannomas
Juvenil CATARACTS

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14
Q

Tuberous sclerosis findings?

A 
Adenoma sebaceum (facial lesions)
Hypopigmented lesions (Ash leaf spots)
Retinal Hamartomas
SEIZURES
Mental retardation
Renal Angiomyolipomas
Cardiac Rhabdomyomas
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15
Q

VHL disease findings?

A

ch 3 + HIF transcription factor consecutively ON
Bilateral Renal cell carcinomas
Hemangioblastomas (retina/medulla/cerebellum)

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16
Q

What is the underlying defect in CF?

A

phe deletion @ 508

Abnormal folding of CFTR leading to degradation in the GOLGI rather than implant into membrane

17
Q

Common Rx of CF?

A

N-acetylcystine= cleaves Disulfide bonds to loosen mucus

*Rx: acetaminophen OD + Cyclophosphamide hematuria

18
Q

What are some important X-linked diseases?

A 
DMD
Wiskott-adlrich 
G6PD def
BTK def
Lesch-Nyhan 
Hemophilia
19
Q

Findings of DMD?

A 
X-linked Frameshift mutation
Weakness of pelvic muscles
Pseudohypertrophy= fibrofatty replacement 
Cardiac myopathy 
Increased CPK
20
Q

Pt with macro-orchadism, long face, large jaw, everted ears, mental retardation, autism, MVP has what mutation?

A

Fragile X= FMR1 CGG repeats.

21
Q 
Trinucleotide repeat syndromes: 
CAG=
CGG=
GAA=
CTG=
A 
CAG= Huntingtons
CGG= Fragile X
GAA= Friedreichs ataxia
CTG= myotonic dystrophy
22
Q

Pt with epicanthal folds, simian crease, ASD, duodenal atresia. what will be the findings on a pregnancy quad screen?

A 
DOWN's syndrome
AFP= Decreased
Estriol= Decreased
B-hCG= Increased
Inhibin A= Increased
23
Q

pt with severe mental retardation, small jaw, clenched hands, heart defects?

A 
Edwards = Trisomy 18 
afp= dec
B-hCH= dec
estriol= dec
Inhibin- normal
24
Q

Pt with mental retardation, small eyes, small head, cleft palate/lip, Polydactyly, heart defect?

A

Patau’s syndrome= trisomy 13

25
Q

Robertsonian translocations occurs @ what chromosomes?

A

Acrocentric = 13, 14, 15, 21, 22

26
Q

Pt with microcephaly, mental retardation, high pitched cry, VSD has what genetic abnormality?

A

Cri-du-chat= 5p deletion

27
Q

Pt with wide spread eyes, short nose, thin upper lip, ADD, VSD/ASD?

A

Fetal alcohol syndrome

28
Q

Female with inguinal masses, vagina ending in blind pouch?

A

Testicular feminization= XR loss of Androgen receptor

FA genetics/ Biochem (10 decks)

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