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Step 1 - BS/Micro/Genetics/Biochem/Cell Bio > Genetics > Flashcards

Genetics Flashcards

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Biology 101 flashcards
1
Q

def: codominance

A

both alleles contribute to phenotype (blood type)

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2
Q

def: variable expressivity

A

phenotype varies amoung individuals with same genotype (NF1)

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3
Q

def: incomplete penetrance

A

not all individuals with mutant genotype show the mutant phenotype (BRCA1 - not everyone gets cancer)

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4
Q

pleiotropy

A

one gene contributes to multiple phenotypic effects (PKU - lots of different signs/sx)

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5
Q

imprinting

A

differences in gene espression depending on if the mutation is maternal or paternal (Prader-willi/angelman’s)

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6
Q

anticipation

A

increased severity, or earlier onset of dx in each generation (huntington’s)

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7
Q

locus heterogenetity

A

mutations at different loci can produce the same phenotype (marfan’s, MEN2B and homocysturia all cause marfanois habitus)

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8
Q

heteroplasmy

A

precesnes of normal and mutated MtDNA

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9
Q

hardy-weinberg shows

A

Psq +2pq + qsq. Psq is the frequency of homozygosity for allele P. Qsq is the frequency of homozygosity for allele Q. 2PQ is the frequency for hetrozygosity

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10
Q

prader-willi imprinting from the

A

Paternal 15 not expressed)

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11
Q

angelMan;s imprinting from the

A

Maternal 15 not expressed

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12
Q

MR, hyperphagia, obesity, hypogonadiasm, hypotonia

A

Prader-Willi

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13
Q

MR seziures, ataxia, inappropraite laughter

A

Angelman’s

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14
Q

ragged red fibres in muscle biopsy

A

myopathy of mtDNA inheratance

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15
Q

genetic defect in Achondroplasia

A

FGF receptor 3 (AD)

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16
Q

genetic defect in AD polycystic kidney dx

A

PKD1 on 16 (AD)

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17
Q

genetic defect in FAP

A

APC gene on 5 (AD)

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18
Q

genetic defect in famial hypercholesterolemia

A

defective/absent LDL receptor (AD)

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19
Q

signs of hereditary hemorrhagic telangiectasia

A

teleangiectasia, recurrent nosebleeds, skin discolorations, AVMs (AD)

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20
Q

genetic defect in hereditary s[herocytosis

A

spectrin/ankyrin defect - hemolytic anemia (AD)

21
Q

treatment for hereditary s[herocytosis

A

splenectomy

22
Q

genetic defect in Huntington’s

A

CAG repetes on 4 (AD)

23
Q

tumors in MEN

A

endocrine glands (AD)

24
Q

genetic defect in NF1

A

long arm of 17 (AD)

25
Q

signs of NF1

A

cafe-au-lair spots, neural tumors, iris harmtomas (AD)

26
Q

genetic defect in NF2

A

NF2 on 22 (AD)

27
Q

sx of NF2

A

bilateral acoustic schwannomas, juvy cataracts

28
Q

tuberois sclerosis

A

facial lesions, ash-leaf spots, eye hamatromas, MR, renal cysts (AD)

29
Q

genetic defect in con hippel-Lindau

A

deletion of VHL tumor supressor on 3 (AD)

30
Q

tumors in von hippel-lindau

A

brain, retina, bilateral renal cell carcinomas

31
Q

genetic defect in CF

A

CFTR gene on 7. commonly deletion of Phe 508 (AR)

32
Q

common X linked disorders (10)

A 
Bruton's agammt aglobulima
Wiskot - aldrich
fabry's
G6PD defic
Ocular albinism
Lesch-Nyan
Duchene's/Becker's MD
Hunter's
Hemophilia A/B
Ornithine transcarbomoylase def
33
Q

type of mutation in Duchenne’s MD

A

frameshift –> deletion of dystrophin gene (X linked)

34
Q

worst MD

A

duchenne’s

35
Q

large testes, jaw and ears

A

fragile X

36
Q

genetic defect in fragile X

A

FMRI gene (X linked)

37
Q

trinucleotide expansion diseases (4)

A

Fragile X
friedreich’s ataxia
huntington’s
Myotonic dystrophy

38
Q

genetic defect of down’s

A

trisomy 21 mosly meiotic disjunction

39
Q

signs of down;s

A

MR, flat facies, epicanthal folds, simian cerase, duodenal atresia, endocardial cushion defect

40
Q

risks of older down’s pts

A

early alzheimer’s and ALL

41
Q

prenatal tests for down’s

A

low a-fetoprotein
high b-hcg
low estroil
high inhibin A

42
Q

edwards’s syndrome

A

severe MR, rocker bottom feet, small jaw, low-se ears, congenital Heart dx

43
Q

genetic defect in edwards’s disease

A

trisomy 18

44
Q

genetic defect in patau’s syndrome

A

trisomy 13

45
Q

patau’s syndrome

A

severe MR, small jaw/ears, cleft lip/palate, holoprocephaly, polydactly, congenitcl heart dx

46
Q

genetic defect in cr- du chat

A

microdeletion of chromosome 5 short arm

47
Q

slight MR, high functioning verbal skills, extreme friendliness, CV problems

A

williams syndrome

48
Q

digeorge syndrome genetic defect

A

microdeletion at 22q11

49
Q

disdevelopment in digeorge

A

3rd and 4th branchial pouches

Step 1 - BS/Micro/Genetics/Biochem/Cell Bio (9 decks)

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