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Boards Biochem > Genetics > Flashcards

Genetics Flashcards

1
Q

blood groups & alpha1 anti trypsin deficiency demonstrate what type of genetics?

A

codominance- both alleles contribute to phenotype of heterozygote

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2
Q

neurofibromatosis type 1 genetics

A

variable expressivity- phenotype varies among ppl with same genotype

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3
Q

untreated phenylketonuria genetics with light skin, intellect disability, musty body odor

A

pleiotropy- one gene causes multiple phenotypic effects

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4
Q

tendency for certain alleles at 2 linked loci to occur together more/less often than expected by chance; measured in a pop. (not family)

A

linkage disequilibrium

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5
Q

genetically distinct cell lines in same person

A

mosaicism
somatic mosaicism- mutation arises from mitotic errors after fertiliz & propogates thru many tissues/organs
gonadal mosaicism- mutation only in egg/sperm cells

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6
Q

mutation affecting G protein signaling - unilat cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, mult endocrine abnormalities
lethal if mutation occurs before fertil (affects all cells)
survivable in those with mosaicism

A

McCune Albright Syndrome

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7
Q

mutations at different loci can produce similar phenotype

ie. albinism

A

locus heterogeneity

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8
Q

different mutations in same locus produce same phenotype

ie. beta thalassemia

A

allelic heterogeneity

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9
Q

presence of both normal & mutated mito DNA causing variable expression in mito inherited disease

A

heteroplasmy

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10
Q

offspring receives 2 copies of chrom from 1 parent and no copies from the other parent

A

uniparental disomy
heterodisomy- heterozygous, meiosis I error
isodisomy- homozygous, meiosis II error, postzygotic
consider when person manifests with recessive disorder but only 1 parent is a carrier

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11
Q

only 1 active allele at some loci with the other inactive d/t methylation - once the other active allele is deleted it leads to disease

A

imprinting

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12
Q

maternal imprinting: maternal gene is normally silent + parental gene is deleted/mutated on chrom 15 - hyperphagia, obesity, intellect disability, hypogonadism, hypotonia
may be a result of maternal uniparental disomy w/ both maternal genes imprinted

A

Prader Wili Syndrome

^p stands for paternal gene deletion

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13
Q

paternal imprinting: paternal gene normally silent + maternal gene deleted/mutated on chrom 15 - inappropriate laughter, sz, ataxia, severe intellect disability
may be result of paternal uniparental disomy w/ both paternal genes imprinted

A

angelMan syndrome

^m stands for maternal gene deletion

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14
Q

often due to defects in structural genes, many generations affected, M & F

A

autosomal dominant

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15
Q

often due to enzyme deficiencies, usually in only 1 generation, more severe, present in childhood usually

A

autosomal recessive

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16
Q

sons of heterozygous mothers have 50% chance of being affected, no male to male transmission, skips generations, more severe in males, females homozygous to be affected

A

X linked recessive

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17
Q

transmitted thru both parents, mom transmits to 50% of daughters & sons, dad transmits to all daughters but no sons

A

X linked dominant

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18
Q

inherited X linked dominant disorder with increase in phosphate wasting at PCT causing rickets-like presentation

A

Hypophosphatemic rickets

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19
Q

rare disorder of mito inheritance 2’ to failure in oxidative phosphorylation
with myopathy, lactic acidosis, CNS disease, ragged red fibers on muscle biopsy

A

mitochondrial myopathies

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20
Q

bilateral enlarged kidneys with many cysts

mutated PKD1 on chrom 16 or PKD2 on chrom 4

A

autosomal dominant polycystic kidney disease

‘16 letters in polycystic kidney’

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21
Q

adenomatous polyps in colon after puberty, mutated chrom 5q APC gene

A

Familial adenomatous polyposis

‘5 letters in polyp’

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22
Q

high LDL d/t defective/absent LDL receptor leads to severe atherosclerotic disease early, corneal arcus, tendon xanthomas (achilles esp.)

A

familial hypercholesterolemia

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23
Q

genetics of FAP

A

autosomal dominant

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24
Q

genetics of familial hypercholesterolemia

A

autosomal dominant

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25
Q

inherited disorder of blood vessels - telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeds, hematuria

A

Hereditary hemorrhagic telangiectasia/Osler Weber Rendu syndrome

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26
Q

genetics of hereditary hemorrhagic telangiectasia

A

autosomal dominant

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27
Q

spheroid erythrocytes d/t spectrin or ankyrin defect, hemolytic anemia, high MCHC, high RDW

A

hereditary spherocytosis

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28
Q

genetics of hereditary spherocytosis

A

autosomal dominant

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29
Q

depression, progressive dementia, choreiform, caudate atrophy, high DA, low GABA, low ACh

A

Huntington disease

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30
Q

genetics of Huntington’s - gene, chrom #, inheritance

A

autosomal dominant, anticipation

chrom 4 trinucleotide repeat CAG

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31
Q

multiple malignancies at early age

aka SBLA cancer syndrome: sarcoma, breast, leukemia, adrenal gland

A

Li Fraumeni syndrome

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32
Q

genetics of Li Fraumeni syndrome

A

abnormal TP53

autosomal dominant

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33
Q

defective fibrin (scaffold for elastin) - CT disorder of skeleton, heart, eyes - tall, long extremities, pectus excavatum, hypermobile, arachnodactyly, cystic medial necrosis of aorta, floppy mitral valve, subluxation of lens

A

marfan syndrome

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34
Q

genetics of marfan syndrome

A

FBN1 gene on chrom 15

autosomal dominant

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35
Q

several distinct syndromes w/ familial tumors of endocrine glands - pancreas, parathyroid, pituitary, thyroid, adrenal medulla

A

mutliple endocrine neoplasias (MEN1, 2A, 2B)

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36
Q

genetics of MEN

A

autosomal dominant
MEN1 gene
RET gene for MEN2A/B

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37
Q

neurocutaneous disorders w/ cafe au lait spots, cutaneous neurofibromatomas, optic gliomas, pheochromocytomas, lisch nodules (pigmented iris hamartomas)

A

neurofibromatosis type 1 (von Recklinghausen disease)

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38
Q

genetics of NF1

A

autosomal dominant
100% penetrance, variable expression
mutated NF1 gene on chrom 17 (‘17 letters in von Recklinghausen’)

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39
Q

bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas

A

neurofibromatosis type 2

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40
Q

genetics of NF2

A

autosomal dominant

NF2 gene on chrom 22 (‘type 2 on chrom 22’)

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41
Q

neurocutaneous disorder w/ multi organ involvement with many benign hamartomas

A

tuberous sclerosis

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42
Q

genetics of tuberous sclerosis

A

autosomal dominant

incomplete penetrance, variable expression

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43
Q

many tumors (benign & malignant) assoc with deletion of VHL gene (tsg) on chrom 3

A

von Hippel Lindau disease

‘3 words for chrom 3’

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44
Q

genetics of von Hippel Lindau disease

A

autosomal dominant

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45
Q

genetics of albinism

A

autosomal recessive

46
Q

genetics of autosomal recessive polycystic kidney disease

A

autosomal recessive

47
Q

genetics of glycogen storage diseases

A

autosomal recessive

48
Q

genetics of hemochromatosis

A

autosomal recessive

49
Q

genetics of Kartagener syndrome

A

autosomal recessive

50
Q

genetics of mucopolysaccharidoses (except for Hunter syndrome)

A

autosomal recessive

51
Q

genetics of phenylketonuria

A

autosomal recessive

52
Q

genetics of sickle cell anemia

A

autosomal recessive

53
Q

genetics of sphingolipidoses (except Fabry disease)

A

autosomal recessive

54
Q

genetics of thalassemias

A

autosomal recessive

55
Q

genetics of wilson disease

A

autosomal recessive

56
Q

genetics of cystic fibrosis

A

autosomal recessive
CFTR gene on chrom 7
usually deletion of Phe508

57
Q

labs with cystic fibrosis

A

high Cl- conc (>60) in sweat
contraction alkalosis with hypokalemia
high immunoreactive trypsinogen in newborn

58
Q

genetics of bruton agammaglobulinemia

A

x linked recessive

59
Q

genetics of wiskott-aldrich syndrome

A

x linked recessive

60
Q

genetics of fabry disease

A

x linked recessive

61
Q

genetics of G6PD deficiency

A

x linked recessive

62
Q

genetics of ocular albinism

A

x linked recessive

63
Q

genetics of lesch-nyhan syndrome

A

x linked recessive

64
Q

genetics of duchenne/becker muscular dystrophy

A

x linked recessive

65
Q

genetics of hunter syndrome

A

x linked recessive

66
Q

genetics of hemophilia A/B

A

x linked recessive

67
Q

genetics of ornithine transcarbamylase deficiency

A

x linked recessive

68
Q

muscular dystrophy d/t frameshift mutation causing truncated dystrophin protein - inhib muscle regeneration

A

Duchenne muscular dystrophy

69
Q

weakness starts in pelvic girdle & rises, pseudohypertrophy of calf mm., gower maneuver, waddling gait, onset before 5yrs, dilated cardiomyopathy

A

Duchenne muscular dystrophy

70
Q

largest protein coding human gene with high chance of spont mutation

A

dystrophin gene

71
Q

labs of duchenne muscular dystrophy

A

high CPK & aldolase

confirm with western blot + muscle biopsy

72
Q

muscular dystrophy d/t non frameshift mutation in dystrophin gene (partially functional), less severe, onset adolescence

A

Becker muscular dystrophy

73
Q

CTG trinucleotide repeat expansion in DMPK gene - abnormal expression of myotonin protein kinase - myotonia, m. wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

A

myotonic type 1 muscular dystrophy

74
Q

genetics of myoclonic type 1 muscular dystrophy

A

autosomal dominant

75
Q

genetics of fragile X syndrome

A

x linked

FMR1 gene, trinucleotide repeat CGG

76
Q

muscular dystrophy w/ intellect disability, macroorchidism, long face, large jaw, large everted ears, autism, MVP

A

fragile x syndrome

77
Q

CGG trinucleotide repeat

A

fragile x syndrome

78
Q

GAA trinucleotide repeat

A

friedreich ataxia

79
Q

CAG trinucleotide repeat

A

Huntington’s

80
Q

CTG trinucleotide repeat

A

myotonic dystrophy

81
Q

common assoc with down syndrome

A

duodenal atresia, Hirschsprung disease, ASD, brushfield spots, early onset Alzheimer’s, incr risk ALL & AML

82
Q

which chrom codes for amyloid precursor protein

A

chrom 21 (Down syndrome chrom)

83
Q

most common cause of trisomy 21

A

meiotic non disjunction assoc with AMA

84
Q

rare genetic causes of trisomy 21

A

robertsonian translocation

mosaicism (post fertil mitotic error)

85
Q

first trimester findings with trisomy 21

A

high nuchal translucency, hypoplastic nasal bone

low serum PAPP-A, high beta hCG

86
Q

second trimester findings with trisomy 21

A

low AFP, high beta hCG, low estriol, high inhibin A

87
Q

trisomy 18

A

Edwards syndrome

‘Election age 18’

88
Q

severe intellect disability, rocker bottom feet, micrognathia, low set ears, clenched hands w/ overlapping fingers, prominent occiput, congenital heart disease
death within 1 yr

A

Edwards syndrome

89
Q

labs for edwards syndrome

A

low PAPP-A, low beta hCG, low AFP, low estriol, low/normal inhibin A

90
Q

trisomy 13

A

Patau syndrome

‘Puberty at 13’

91
Q

intellect disability, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease, cutis aplasia

A

Patau syndrome

92
Q

labs of patau syndrome

A

low beta hCG, low PAPP-A, high nuchal translucency

93
Q

disorders assoc with chrom 3

A

von hippel lindau disease

renal cell carcinoma

94
Q

disorders assoc with chrom 4

A

ADPKD (PKD2)

Huntington’s

95
Q

disorders assoc with chrom 5

A

Cri du chat syndrome

FAP

96
Q

disorders assoc with chrom 7

A

Williams syndrome

cystic fibrosis

97
Q

disorder assoc with chrom 9

A

Friedreich ataxia

98
Q

disorder assoc with chrom 11

A

Wilms tumor

99
Q

disorders assoc with chrom 13

A 
Patau syndrome ('puberty')
Wilson disease
100
Q

disorders assoc with chrom 15

A

Prader-Willi syndrome

Angelman syndrome

101
Q

disorder assoc with chrom 16

A

ADPKD (PKD1)

102
Q

disorder assoc with chrom 17

A

Neurofibromatosis type 1

103
Q

disorder assoc with chrom 18

A

Edwards syndrome

104
Q

disorders assoc with chrom 22

A 
Neurofibromatosis type 2
DiGeorge syndrome (22q11)
105
Q

disorder assoc with X chrom

A

fragile X syndrome
X linked agammaglobulinemia
Klinefelter syndrome (XXY)

106
Q

type of chrom translocation that commonly involves chrom 13, 14, 15, 21, 22

A

Robertsonian translocation

107
Q

congenital microdeletion of short arm of chrom 5

microcephaly, intellect disability, high pitched crying, epicanthal folds, VSD

A

Cri du chat syndrome

108
Q

congenital microdeletion of long arm chrom 7 (deletes elastin gene) - elfin facies, intellect disability, hyperCa, well develop verbal skills, extreme friendliness, CV problems

A

Williams syndrome

109
Q

22q11 deletion syndromes

A

DiGeorge syndrome

Velocardiofacial syndrome

110
Q

cause of 22q11 deletion

A

aberrant development of 3rd & 4th branchial pouches

111
Q

cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypoCa

A

22q11 syndrome

Boards Biochem (6 decks)

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