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First Aid Biochemistry > Genetics > Flashcards

Genetics Flashcards

1
Q

Both alleles contribute to phenotype of heterozygote

A

Codominance

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2
Q

Phenotype varies among individuals with same genotype

A

Variable Expressivity

ex. NF1

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3
Q

Not all individuals with a mutant genotype show the mutant phenotype

A

Incomplete Penetrance

BRCA1 gene mutations don’t always cause breast or ovarian cancer

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4
Q

One gene contributes to multiple phenotypic effects

A

Pleiotropy

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5
Q

Increased severity or earlier onset of disease in succeeding generations

A

Anticipation (ex Huntington)

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6
Q

Loss of heterozygosity

A

develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops

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7
Q

Dominant Negative Mutation

A

a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

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8
Q

Linkage Disequilibrium

A

tendency for certain alleles at 2 linked loci to occur together more often than expected by chance

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9
Q

Somatic Mosaicism

A

mutation propagates through multiple tissues or organs

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10
Q

Gonadal Mosaicism

A

mutation only in egg or sperm cells

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11
Q

Arises from mitotic errors AFTER fertilization

A

mosaicism

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12
Q

McCune Albright Syndrome

A

Cafe-au-lait, early puberty, abnormal bones
if mosaic - survivable
if somatic - lethal

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13
Q

Mutations at different loci can produce a similar phenotype

A

Locus heterogeneity (Albinism)

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14
Q

Different mutations in the same locus produce SAME phenotype

A

Allelic heterogeneity (beta-thalassemia)

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15
Q

Heteroplasmy

A

both normal and mutated mtDNA

variable expression of mitochondrial inherited disease

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16
Q

Heterodisomy

A

meiosis I error

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17
Q

isodisomy

A

meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes and loss of the other original pair

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18
Q

Hardy-Weinberg

A

p^2+ 2pq + q^2
2pq is frequency of heterozygosity
p^2 frequency of homozygosity for allele p
X-linked recessive dx in males in q and females is q^2

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19
Q

Assumption of Hardy-Weinberg

A

No mutation occurring at locus, natural selection is not occurring, completely random mating, no net migration

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20
Q

Gene from mom is normally silent and Paternal gene is deleted or mutated
Maternal Imprinting

A

Prader-Willi Syndrome

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21
Q

Gene from dad is normally silent and Maternal gene is deleted/mutated
Paternal Imprinting

A

Angelman Syndrome

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22
Q

Hyperphagia, obesity, intellectual disability, hypogonadism, and hyptonia

A

Prader-Willi Syndrome

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23
Q

Happy puppet

A

Angelman Syndrome, also gets seizures, ataxia and severe intellectual disability

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24
Q

transmitted through both parents
mothers transmit to 50% of daughters and sons
Fathers transmit to all daughters but no sons

A

X-linked dominant

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25
Q

Type of inheritance for Hypophosphatemic Rickets

A

X-linked Dominant

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26
Q

Hypophophatemic Rickets

A

vitamin D resistant rickets, increased phosphate wasting at proximal tubule

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27
Q

Ragged Red Fibers

A

Mitochondrial Myopathies

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28
Q

Cysts on both kidneys

A

Autosomal Dominant Polycystic Kidney Disease

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29
Q

PKD1

A

On chromosome 16, 85% for AD polycystic kidney disease

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30
Q

PKD2

A

On chromosome 4, 15% for AD polycystic kidney disease

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31
Q

Familial Adenomatous Polyposis

A

Autosomal dominant, chromosome 5 (APC gene)

32
Q

Familial Hypercholesterolemia

A 
Autosomal dominant, elevated LDL due to defective or absent LDL receptor
tendon xanthomas (Achilles Tendon)
33
Q

Hereditary Hemorrhagic Telangiectasia

A

telangiectasia, recurrent epistaxis, skin discolorations, AV malformations, GI bleeding, hematuria
Autosomal Dominant

34
Q

Hereditary Spherocytosis

A

spectrin or ankyrin defect, autosomal dominant
hemolytic anemia, increase MCHC
osmotic fragility

35
Q

Chromosome Huntington’s is on

A

Chromosome 4

36
Q

cystic medial necrosis of aorta

A

Marfan Syndrome (autosomal dominant)

37
Q

ret gene

A

MEN 2A and 2B

38
Q

von Recklinghausen Disease

A

NF1, chromosome 17

Autosomal Dominant

39
Q

Bilateral Acoustic Schwannomas and Juvenile Cataracts

A

Neurofibromatosis 2, Chromosome 22

Autosomal dominant

40
Q

Cutaneous Neurofibromas

A

NF1

41
Q

Meningiomas and epndymomas

A

NF2

42
Q

Numerous benign hamartomas, multisystem involvement

A

Tuberous Sclerosis, Autosomal Dominant

Incomplete Penetrance

43
Q

von Hippel-Lindau disease

A

deleted VHL, chromosome 3

Autosomal Dominant

44
Q

retinal mulberry, rhabdomyoma, sub-ungual fibromas, ashened skin, hematuria

A

Tuberous Sclerosis

Chr 9 & 16

45
Q

Autosomal Recessive Diseases

A

Albinism, ARPKD, CF, glycogen storage diseases, hemochromatosis, Kartagener, mucopolysaccharidoses (except hunter syndrome), PKU, sickle cell, aphingolipidoses (except Fabry), thalassemias, Wilson disease

46
Q

Cystic Fibrosis

A

Chromosome 7, defect in CFTR

commonly Phe508

47
Q

Increased Chloride in Sweat

A

Cystic Fibrosis

48
Q

Tx for CF

A 
N-acetylcysteine to loosen mucus plugs
dornase alfa (DNAse) to clear leukocytic debris
49
Q

X-linked disorders

A

Bruton agammaglobulinemia, Wiskott-Aldrich syn, Fabry, G6PD deficiency, Ocular Albinism, Lesch-Nyhan Syn, Duchenne and Beckers, Hunter, Hemophilia A and B, Ornitine Transcarbamylase deficiency

50
Q

Gower Maneuver

A

Duchenne Muscle dystrophy, frameshift mutation

51
Q

Common cause of death from Duchenne

A

Dilated Cardiomyopathy

52
Q

Becker Muscular Dystrophy

A

X-linked point mutation in dystrophin gene

53
Q

CTG trinucleotide repeat expansion in DMPK gene

A

Myotonic Type 1 Muscular Dystrophy

54
Q

Muscle Wasting, Frontal Balding, Cataracts, Testicular Atrophy, Arrhythmia

A

Myotonic Type 1 Muscular Dystrophy

55
Q

CGG trinucleotide repeat

A

Fragile X syndrome

56
Q

methylation and expression of the FMR1 gene

A

Fragile X syndrome

57
Q

Macroorchidism, mitral valve prolapse, long face with large jaw, large ears

A

Fragile X syndrome

58
Q

GAA trinucleotide repeat

A

Friedriech Ataxia

59
Q

CAG trinucleotide repeat

A

Huntington Disease

60
Q

Brushfield Spots

A

Whites of the eye in Down’s

61
Q

1st trimester: increase nuchal translucency and hypoplastic nasal bone, decreased serum PAPP-A, increase beta-hCG

A

Down

62
Q

2nd trimester: decreased AFP, increase beta-hCG, decreased estriol, increase inhibin A

A

Down

63
Q

1 cause of Down

A

meiotic nondisjunction of homologous chromosomes

64
Q

Trisomy 18

A

Edwards Syndrome

65
Q

prominent occiput, rocker-bottom feet, micrognathia, low set ears

A

Edwards Syndrome

66
Q

Trisomy 13

A

Patau Syndrome

retarded, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate

67
Q

Polydactyly and holoprosencephaly

A

Patau Syndrome

68
Q

Nonreciprocal Chromosomal Translocation

A

Robertsonian translocation
13, 14, 15, 21, and 22
occurs on long arms of 2 acrocentric chromosomes

69
Q

microdeletion of short arm Chromosome 5

A

Cri-du-Chat

70
Q

high pitched crying/mewing, VSD, dumb

A

Cri-du-Chat

71
Q

Congenital microdeletioin of long arm chromosome 7

A

deleted elastin gene, Williams Syndrome

72
Q

Elfin facies, dumb, hypercalcemia, well-developed verbal skills, extreme friendliness to strangers

A

Williams Syndrome

73
Q

Velocardiofacial Syndrome

A 
22q11 deletion (same as DIGeorge)
palate, facial, and cardiac defects
74
Q

DiGeorge Syndrome

A

22q11 deletion

thymic, parathyroid, and cardiac defects

75
Q

Who sells the best cookies?

A

Girl Scouts!

First Aid Biochemistry (5 decks)

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