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Pathology (F) > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Point mutation where altered DNA codes for the same AA

A

Silent mutation

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2
Q

Point mutation where altered DNA codes for a diff AA

A

Missense mutation

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3
Q

Frameshift mutation of dystrophin gene

A

Duchenne muscular dystrophy

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4
Q

Nonframeshift mutation of dystrophin gene

A

Becker’s muscular dystrophy

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5
Q

Insertion or deletion of one or more nucleotide shifts the reading frame of the DNA strand

A

Frameshift mutation

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6
Q

Amplification of a sequence of 3 nucleotides; presents with anticipation

A

Trinucleotide-repeat mutations

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7
Q

Type of mutation in Huntington’s disease, myotonic dystrophy, fragile X syndrome, Friedrich’s ataxia

A

Trinucleotide-repeat mutations

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8
Q

X-linked recessive disorders

Be Wise Fool’s GOLD Heeds Silly Hope

A 
Bruton's agammaglobulinemia
Wiskott-Aldrich syndrome
Fabry's disease
G6PD
Ocular albinism
Lech-Nyhan syndrome
Duchenne's muscular dystrophy
Hunter syndrome
Hemophilia
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9
Q

Affected heterozygous female to half her sons and half her daughters

A

X-linked dominant

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10
Q

Transmitted only through the mother

A

Mitochondrial inheritance

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11
Q

Diseases passed by mitochondrial inheritance

A

MELAS

Leber’s hereditary optic neuropathy

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12
Q

Mutations in single genes w/ large effects (high penetrance)

A

Mendelian disorders

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13
Q

Trinucleotide involved in Huntington’s dse

A

CAG

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14
Q

Trinucleotide involved in myoTonic dystrophy

A

CTG

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15
Q

Trinucleotide involved in Fragike X syndrome

A

CGG

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16
Q

Trinucelotid einvolved in Friedrich’s ataxia

A

GAA

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17
Q

D/o of CT d/t defect in fibrillin-1; presents with skeletal, ocular changes (ectopia lentis), and CV changes (MVP, cystic medial necrosis)

A

Marfan syndrome

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18
Q

What condition does cystic medial necrosis predispose to?

A

Aortic dissection

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19
Q

Bilateral subluxation of the lens

A

Ectopia lentis

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20
Q

D/O of CT d/t defect in fibrillar collagen (most commonly Type III)
S/Sx: hypermobile jts, stretchable skin

A

Ehlers-Danlos Syndrome

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21
Q

Inherited d/o w/ mutation to gene encoding LDL receptor; high risk for premature atherosclerosis

A

Hypercholesterolemia

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22
Q

Enzyme deficient in Tay-Sachs Disease

A

Hexosaminidase-a

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23
Q

Involvement of Tay-Sachs Disease

A

CNS (MR)

Retina (cherry-red spot in macula)

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24
Q

Elevated in lysosomes of Tay Sachs pts

A

GM2 gangliosides

25
Q

Dse w/ lysosomal accumulation if sphingomyelinase

A

Niemann-Pick Disease

26
Q

Difference b/w type A and B Niemann-Pick Disease?

A

Type B has no CNS involvement

27
Q

Organs enlarged in Niemann-Pick disease

A

Spleen

Liver

28
Q

Cytoplasmic bodies resembling concentric lamellated myelin figures in Niemann-Pick Disease

A

Zebra bodies

29
Q

Difference b/w Tay-Sachs and Niemann-Pick Disease

A

Niemann-Pick Disease presents with hepatosplenomegaly

30
Q

Most common lysosomal storage disorder

A

Gaucher Disease

31
Q

Mutation in gene encoding what is affected in Gaucher’s Disease

A

Glucocerebrosidase

32
Q

Deficiencies of lysosomal enzymes involved in degradation of glycosaminoglycans

A

Mucopolysaccharidoses

33
Q

Enzyme defect in Type I mucopolysaccharidoses (MPS)

A

a-L-iduronidase

34
Q

Enzyme defect in Type II MPS

A

Iduronosulfate sulfatase

35
Q

Enzyme defect in Type III (Sanfilippo) MPS

A

Heparan N-sulfatase

N-acetylglucosaminidase

36
Q

Enzyme defect in Type IV (Morquio) MPS

A

N-acetylgalactosamine-6-sulfatase

37
Q

Enzyme defect in Type V (Scheie) MPS

A

a-L-iduronidase

38
Q

Enzyme defect in Type VI (Maroteaux-Lamy) MPS

A

N-acetylgalactosamine-4-sulfatase

39
Q

Enzyme defect in Type VII (Sly) MPS

A

B-glucoronidase

40
Q

Distended cells w/ clearing of the cytoplasm; seen in MPS

A

Balloon cells

41
Q

Enzyme that converts hemogentistic acid to methylacetoacetic acid; deficient in ALKAPTONURIA

A

Homogentisic oxidase

42
Q

Disease presenting w/ black urine, ochronosis (blue-black pigmentation on the ears, nose, cheeks) and pigment deposits in articular cartilages

A

Alkaptonuria

43
Q

Unequal separation of chromosome in meiosis I; seen in Turner’s and Down syndrome

A

Nondisjunction

44
Q

Mitotic errors giving rise to >2 population of cells w/ diff chr complement

A

Mosaicism

45
Q

Loss of portion of chromosome; seen in Cri du chat syndrome

A

Deletion

46
Q

Transfer of chromosomal pts b/w nonhomologous chromosomes

A

Translocation

47
Q

Trisomy 21

A

Down syndrome

48
Q

Trisomy 13

A

Patau syndrome

49
Q

Trisomy 18

A

Edward syndrome

50
Q

P’s of Patau

A

Polydactyly
Cleft Palate
HoloProsencephaly

51
Q

Results of quadruple screen in Down’s syndrome

A

Inc bHCG
Inc inhibin A
Dec AFP
Dec estriol

52
Q

UTZ finding in fetus w/ Down’s syndrome

A

Increased nuchal translucency

53
Q

Disease assoc w/ Down syndrome

A

Hirschsprung’s disease
Duodenal atresia
Alzheimer disease
ALL, AML

54
Q

Microdeletion of long arm of chr 7; elfin facies and extreme friendliness

A

Williams syndrome

55
Q

47 XXY, male hypogonadism, eunuchoid body shape

A

Klinefelter syndrome

56
Q

Short stature, shield chest, webbed neck, Coarctation of the aorta

A

Turner syndrome

57
Q

2nd most common genetic cause of MR; long face w/ large mandible, everted ears, macro-orchidism

A

Fragile X syndrome

X-men’s Wolverine: extra large ears, jaws, testes

58
Q

Microdeletion on paternal chr 15; hyperphagia, MR, hypotonia, hypogonadism

A

Prader-Willi syndrome

59
Q

Microdeletion of maternal chr 15; happy puppet, wide based gait

A

Angelman syndrome

Pathology (F) (20 decks)

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