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Step 1 - Biochemistry > Genetics > Flashcards

Genetics Flashcards

1
Q

One gene contributes to multiple phenotypic effects

A

Pleiotropy

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2
Q

Increased severity or earlier onset of disease in succeeding generations

A

Anticipation

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3
Q

If a patient inherits a mutation in a tumor suppressor gene, the complementary allele must be mutated before cancer develops

A

Loss of heterozygosity

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4
Q

Loss of heterozygosity: examples

A

Retinoblastoma and the two hits hypothesis
Lynch syndrome
Li-Fraumeni syndrome

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5
Q

Loss of heterozygosity is not true for

A

Oncogenes

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6
Q

Example of mosaicism

A

McCune Albright syndrome

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7
Q

Mutations at different loci can produce a similar phenotype

A

Locus heterogeneity

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8
Q

Different mutations in the same loci produce the same phenotype

A

Allelic heterogeneity

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9
Q

Exaple of allelic heterogeneity

A

Beta thalassemia

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10
Q

Presence of both normal and mutated mtDNA

A

Heteroplasmy

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11
Q

Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

A

Uniparental disomy

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12
Q

Uniparental disomy that indicates an error in meiosis I

A

HeterodIsomy

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13
Q

Uniparental disomy that indicates an error in meiosis II

A

IsodIsomy

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14
Q

p2+2pq+q2=1

A

Population at Hardy Weinberg equilibrium

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15
Q

Frequency of an X-linked recessive disease in males (Population at Hardy Weinberg equilibrium)

A

q

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16
Q

Frequency of an X-linked recessive disease in females (Population at Hardy Weinberg equilibrium)

A

q2

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17
Q

Hardy Weinberg law assumptions

A
  1. No mutation occurring at the locus
  2. Natural selection is not occurring
  3. Completely random mating
  4. No net migration
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18
Q

Examples of mutations in the not imprinted allelle

A

Prader-Willi
Angelman
Mutation in chromosome 15

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19
Q

Paternal gene mutated

A

Prader Willi syndrome

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20
Q

Maternal gene mutated

A

Angelman

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21
Q

Happy puppet

A

Angelman syndrome

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22
Q

Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

A

Prader-Willi syndrome

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23
Q

Fathers transmit to all daughters but no sons

A

X-linked dominant

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24
Q

X-linked dominant examples

A

Hypophosphatemic ricketts
Fragile X syndrome
Alport syndrome

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25
Q

Transmitted only through the mother

A

Mitochondrial inheritance

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26
Q

Ragged red fibers

A

Mitochondrial myopathies: accumulation of diseased mitochondria

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27
Q

Hunter syndrome is the only mucopolysaccharidose disease with an ____________ inheritance

A

Autosomal recessive

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28
Q

Cystic fibrosis inheritance and affected gene

A

Autosomal recessive

CFTR (Cr7): Phe508

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29
Q

Most common lethal genetic disease in Caucasian population

A

Cystic fibrosis

30
Q

Dx of Cystic fibrosis

A

> 60mEq/L Cl in sweat is diagnostic

31
Q

High immunoreactive trypsinogen

A

Newborn screening that indicates cystic fibrosis

32
Q

Early infancy infection in cystic fibrosis

A

S aureus

33
Q

Adolescence pulmonary infection in cystic fibrosis

A

P aeruginosas

34
Q

Suspect if meconium ileus in newborns

A

Cystic fibrosis

35
Q

Anti-inflammatory agent in cystic fibrosis

A

Azithromycin

36
Q

Slows down cystic fibrosis progression

A

Ibuprofen

37
Q

X Linked disorders

A 
Oblivious Female Will Often Give Her Boys Her xLinked Disorders:
Ornithine transcarbamylase deficiency
Fabry disease
Wiskott-Aldrich syndrome
Ocular albinism
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia
Lesch Nyhan syndrome
Duchenne (and Becker) muscular dystrophy
38
Q

Female carriers variably affected depending on the pattern of inactivation of the X chromosome carrying the mutant vs normal gene

A

X linked recessive disorders

39
Q

Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle suggests

A

Duchenne disease

40
Q

Cause of death in duchenne disease

A

Dilated cardiomyopathy

41
Q

Largest protein-coding human gene

A

Dystrophine gene (DMD)

42
Q

Results in myonecrosis

A

Loss of dystrophin in Duchenne disease

43
Q

Non framshift deletions in dystrophin gene

A

Becker disease

44
Q

Steinert disease

A

Myotonic dystrophy tipe I

45
Q

Inheritance of Steinert disease

A

Autosomal Dominant

46
Q

Douchenne and Becker inheritance

A

XLinked

47
Q

CTG trinucleotide repeat expansion in the DMPK gene

A

Myotonic dystrophy tipe I: Steinert disease

48
Q

Common findings of Steinert disease

A

CTG expansion:
Cataracts
Toupee: early balding in men
Gonadal atrophy

49
Q

Patient uses upper extremities to help stand up

A

Gower sign: muscular dystrophies

50
Q

Trinucleatide repeat in FMR1 gene

A

Fragile X syndrome

51
Q

Most common cause of inherited intellectual disability and autism

A

Fragile X syndrome

52
Q

Protruding Chin
Macroorchidism
Mitral valve prolapse

A

Fragile X syndrome

CGG repeats: chin, giant gonads

53
Q

Trinucleotide repeat expansion diseases

A 
Huntington disease
Myotonic dystrophy
Fragile X syndrome
Friedreich ataxia:
Try(trinucleotide) Hunting For my Fragile cageFree Eggs (X)
54
Q

Repeats in Huntington disease

A

CAG: caudate has less ACh and GABA

55
Q

Repeats in myotonic dystrophy

A

CTG: cataracts, toupee (early balding) and Gonadal atrophy

56
Q

Repeats in Fragile X syndrome

A

CGG: Chin (protruding), Giant Gonads

57
Q

Repeats in Friedreich ataxia

A

GAA: Ataxic GAAit

58
Q

Brushfield spots

A

Down syndrome

59
Q

Most common cause of genetic intellectual disability

A

Down Syndrome

60
Q

Most common viable chromosomal disorder

A

Down Syndrome

61
Q

Duodenal atresia and Hirschsprung disease are more common in

A

Down syndrome

62
Q

Associated with early onset Alzheimer disease

A 
Down Syndrome
Chromosome 21 (Codes for amiloid precursor protein)
63
Q

5% of Down syndrome cases are caused by

A

Unbalanced Robertsonian translocation (14,21)

64
Q

95% of Down syndrome cases are caused by

A

Meiotic nondisjunction

65
Q

First trimester US in down syndrome

A

Increased nucal translucency 3mm
Hypoplasic nasal bone
Less serum PAPP-A
Higher free Beta-hCG

66
Q

Second trimester US in down syndrome

A

Less alpha-fetoprotein
Higher beta-hCG
Lower estriol
Higher inhibin A

67
Q

Low PAPPA and beta-hCG in first trimester US

A 
Edwards syndrome (18 trisomy)
Patau syndrome (13 trisomy)
68
Q

Findings in Edwards syndrome

A 
PRINCE Edwards
Prominent occiput
Rocker-bottom feet
Intellectual disability
Nondisjunction
Clenched fists
Ears low set
69
Q 
Cleft lip/palate
Holoprosencephaly
Polydactyly
Cutis aPlasia
Congenital heart disease
A

Patau syndrome

70
Q

Sindrome maullido de gato

A

Cri-du-chat syndrome: microdeletion of short arm of chromosome 5

71
Q

Microdeletion of long arm of ch 7

A

Williams syndrome

72
Q

22q11 deletion syndromes

A

2x1 22q11: aberrant development of 3rd and 4th branchial pouches

  • DiGeorge syndrome
  • Velocardiofacial syndrome

Step 1 - Biochemistry (7 decks)

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