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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
inherited disorder of blood vessels - telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeds, hematuria
Hereditary hemorrhagic telangiectasia/Osler Weber Rendu syndrome
26
genetics of hereditary hemorrhagic telangiectasia
autosomal dominant
27
spheroid erythrocytes d/t spectrin or ankyrin defect, hemolytic anemia, high MCHC, high RDW
hereditary spherocytosis
28
genetics of hereditary spherocytosis
autosomal dominant
29
depression, progressive dementia, choreiform, caudate atrophy, high DA, low GABA, low ACh
Huntington disease
30
genetics of Huntington's - gene, chrom #, inheritance
autosomal dominant, anticipation | chrom 4 trinucleotide repeat CAG
31
multiple malignancies at early age | aka SBLA cancer syndrome: sarcoma, breast, leukemia, adrenal gland
Li Fraumeni syndrome
32
genetics of Li Fraumeni syndrome
abnormal TP53 | autosomal dominant
33
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
marfan syndrome
34
genetics of marfan syndrome
FBN1 gene on chrom 15 | autosomal dominant
35
several distinct syndromes w/ familial tumors of endocrine glands - pancreas, parathyroid, pituitary, thyroid, adrenal medulla
mutliple endocrine neoplasias (MEN1, 2A, 2B)
36
genetics of MEN
autosomal dominant MEN1 gene RET gene for MEN2A/B
37
neurocutaneous disorders w/ cafe au lait spots, cutaneous neurofibromatomas, optic gliomas, pheochromocytomas, lisch nodules (pigmented iris hamartomas)
neurofibromatosis type 1 (von Recklinghausen disease)
38
genetics of NF1
autosomal dominant 100% penetrance, variable expression mutated NF1 gene on chrom 17 ('17 letters in von Recklinghausen')
39
bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
neurofibromatosis type 2
40
genetics of NF2
autosomal dominant | NF2 gene on chrom 22 ('type 2 on chrom 22')
41
neurocutaneous disorder w/ multi organ involvement with many benign hamartomas
tuberous sclerosis
42
genetics of tuberous sclerosis
autosomal dominant | incomplete penetrance, variable expression
43
many tumors (benign & malignant) assoc with deletion of VHL gene (tsg) on chrom 3
von Hippel Lindau disease '3 words for chrom 3'
44
genetics of von Hippel Lindau disease
autosomal dominant
45
genetics of albinism
autosomal recessive
46
genetics of autosomal recessive polycystic kidney disease
autosomal recessive
47
genetics of glycogen storage diseases
autosomal recessive
48
genetics of hemochromatosis
autosomal recessive
49
genetics of Kartagener syndrome
autosomal recessive
50
genetics of mucopolysaccharidoses (except for Hunter syndrome)
autosomal recessive
51
genetics of phenylketonuria
autosomal recessive
52
genetics of sickle cell anemia
autosomal recessive
53
genetics of sphingolipidoses (except Fabry disease)
autosomal recessive
54
genetics of thalassemias
autosomal recessive
55
genetics of wilson disease
autosomal recessive
56
genetics of cystic fibrosis
autosomal recessive CFTR gene on chrom 7 usually deletion of Phe508
57
labs with cystic fibrosis
high Cl- conc (>60) in sweat contraction alkalosis with hypokalemia high immunoreactive trypsinogen in newborn
58
genetics of bruton agammaglobulinemia
x linked recessive
59
genetics of wiskott-aldrich syndrome
x linked recessive
60
genetics of fabry disease
x linked recessive
61
genetics of G6PD deficiency
x linked recessive
62
genetics of ocular albinism
x linked recessive
63
genetics of lesch-nyhan syndrome
x linked recessive
64
genetics of duchenne/becker muscular dystrophy
x linked recessive
65
genetics of hunter syndrome
x linked recessive
66
genetics of hemophilia A/B
x linked recessive
67
genetics of ornithine transcarbamylase deficiency
x linked recessive
68
muscular dystrophy d/t frameshift mutation causing truncated dystrophin protein - inhib muscle regeneration
Duchenne muscular dystrophy
69
weakness starts in pelvic girdle & rises, pseudohypertrophy of calf mm., gower maneuver, waddling gait, onset before 5yrs, dilated cardiomyopathy
Duchenne muscular dystrophy
70
largest protein coding human gene with high chance of spont mutation
dystrophin gene
71
labs of duchenne muscular dystrophy
high CPK & aldolase | confirm with western blot + muscle biopsy
72
muscular dystrophy d/t non frameshift mutation in dystrophin gene (partially functional), less severe, onset adolescence
Becker muscular dystrophy
73
CTG trinucleotide repeat expansion in DMPK gene - abnormal expression of myotonin protein kinase - myotonia, m. wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
myotonic type 1 muscular dystrophy
74
genetics of myoclonic type 1 muscular dystrophy
autosomal dominant
75
genetics of fragile X syndrome
x linked | FMR1 gene, trinucleotide repeat CGG
76
muscular dystrophy w/ intellect disability, macroorchidism, long face, large jaw, large everted ears, autism, MVP
fragile x syndrome
77
CGG trinucleotide repeat
fragile x syndrome
78
GAA trinucleotide repeat
friedreich ataxia
79
CAG trinucleotide repeat
Huntington's
80
CTG trinucleotide repeat
myotonic dystrophy
81
common assoc with down syndrome
duodenal atresia, Hirschsprung disease, ASD, brushfield spots, early onset Alzheimer's, incr risk ALL & AML
82
which chrom codes for amyloid precursor protein
chrom 21 (Down syndrome chrom)
83
most common cause of trisomy 21
meiotic non disjunction assoc with AMA
84
rare genetic causes of trisomy 21
robertsonian translocation | mosaicism (post fertil mitotic error)
85
first trimester findings with trisomy 21
high nuchal translucency, hypoplastic nasal bone | low serum PAPP-A, high beta hCG
86
second trimester findings with trisomy 21
low AFP, high beta hCG, low estriol, high inhibin A
87
trisomy 18
Edwards syndrome | 'Election age 18'
88
severe intellect disability, rocker bottom feet, micrognathia, low set ears, clenched hands w/ overlapping fingers, prominent occiput, congenital heart disease death within 1 yr
Edwards syndrome
89
labs for edwards syndrome
low PAPP-A, low beta hCG, low AFP, low estriol, low/normal inhibin A
90
trisomy 13
Patau syndrome | 'Puberty at 13'
91
intellect disability, rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease, cutis aplasia
Patau syndrome
92
labs of patau syndrome
low beta hCG, low PAPP-A, high nuchal translucency
93
disorders assoc with chrom 3
von hippel lindau disease | renal cell carcinoma
94
disorders assoc with chrom 4
ADPKD (PKD2) | Huntington's
95
disorders assoc with chrom 5
Cri du chat syndrome | FAP
96
disorders assoc with chrom 7
Williams syndrome | cystic fibrosis
97
disorder assoc with chrom 9
Friedreich ataxia
98
disorder assoc with chrom 11
Wilms tumor
99
disorders assoc with chrom 13
``` Patau syndrome ('puberty') Wilson disease ```
100
disorders assoc with chrom 15
Prader-Willi syndrome | Angelman syndrome
101
disorder assoc with chrom 16
ADPKD (PKD1)
102
disorder assoc with chrom 17
Neurofibromatosis type 1
103
disorder assoc with chrom 18
Edwards syndrome
104
disorders assoc with chrom 22
``` Neurofibromatosis type 2 DiGeorge syndrome (22q11) ```
105
disorder assoc with X chrom
fragile X syndrome X linked agammaglobulinemia Klinefelter syndrome (XXY)
106
type of chrom translocation that commonly involves chrom 13, 14, 15, 21, 22
Robertsonian translocation
107
congenital microdeletion of short arm of chrom 5 | microcephaly, intellect disability, high pitched crying, epicanthal folds, VSD
Cri du chat syndrome
108
congenital microdeletion of long arm chrom 7 (deletes elastin gene) - elfin facies, intellect disability, hyperCa, well develop verbal skills, extreme friendliness, CV problems
Williams syndrome
109
22q11 deletion syndromes
DiGeorge syndrome | Velocardiofacial syndrome
110
cause of 22q11 deletion
aberrant development of 3rd & 4th branchial pouches
111
cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypoCa
22q11 syndrome

Boards Biochem (6 decks)

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