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STEP1 2015 > inheritance > Flashcards

inheritance Flashcards

1
Q

ADPKD

A

AD

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2
Q

Achondroplasia

A

AD

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3
Q

FAP

A

AD

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4
Q

Familial hypercholesterolemia

A

AD

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5
Q

Osler- Weber-Rendu syndrome

A

AD

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6
Q

Hereditary spherocytosis

A

AD

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7
Q

Huntington

A

AD

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8
Q

Marfan

A

AD

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9
Q

MEN

A

AD

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10
Q

Neurofibromatosis 1, 2

A

AD

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11
Q

Tuberous sclerosis

A

AD

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12
Q

VHL disease

A

AD

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13
Q

acute intermittent porphyria

A

AD

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14
Q

Albinism

A

AR

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15
Q

ARPKD

A

AR

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16
Q

Cystic fibrosis

A

AR

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17
Q

Glycogen storage diseases

A

AR

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18
Q

Hemochromatosis

A

AR

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19
Q

Mucopolysaccharidoses

A

AR

20
Q

PKU

A

AR

21
Q

SCD

A

AR

22
Q

Sphigolipidoses

A

AR

23
Q

Thalassemias

A

AR

24
Q

x- linked recessive

A 
"oblivious female will give her boys her x-linked disorders"
ocular albinism
Fabry disease
Wiskott-Aldrich
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A and B
 Lesch- Nyhan syndrome
Duchenne muscular dystrophy
25
Q

Ocular albinism

A

XLR

26
Q

Fabry

A

XLR

27
Q

Wiskott-Aldrich

A

XLR

28
Q

G6PD

A

XLR

29
Q

Hunter

A

XLR

30
Q

Bruton

A

XLR

31
Q

Hemophilia A and B

A

XLR

32
Q

Lesch-Nyhan

A

XLR

33
Q

Duchenne muscular dystrophy

A

XLR

34
Q

ragged red muscle fibers seen on biopsy

A

mitochondrial myopathies with mitochondrial inheritance

35
Q

Leber hereditary optic neuropathy

A

mitochondrial inheritance

36
Q

Leigh syndrome (subacute sclerosing encephalopathy)

A

mitochondrial inheritance

37
Q

Anticipation

A

age of onset is earlier and earlier in successive generations
or, severity of disease worsens with successive generations

38
Q

incomplete penetrance

A

not all with the mutant genotype show the mutant phenotype

39
Q

codominance

A

2 alleles, neither is dominant

40
Q

variable expression

A

severity of phenotype varies from one individual to another

41
Q

pleiotropy

A

single gene has more than one effect on phenotype

42
Q

locus heterogeneity

A

mutations at different loci can produce the same phenotype

43
Q

mosaicism

A

cells in the body have different genetic makeup

44
Q

imprinting

A

phenotype differences depend on whether mutation comes from mother or father’s genetic material (PW and Angelman)

45
Q

Prader-Willi

A

deletion of father’s gene (proximal portion of chromosome 15q11-q13) on chromosome 15, with normal maternal allele inactivation, leading to a deficit of genetic material

symptoms:
hyperphagia
obesity
short stature (partial GH deficiency)
intellectual disability
behavior disorders (tantrums, skin- picking, OCD)
hypogonadotropic hypogonadism leading to genital hypoplasia
osteoporosis
delayed menarch

diagnosis: confirmed with FISH (fluorescence in- situ hybridization)

treatmen: limit access to food
GH if short stature

POP
Prader-Willi
Overeating
Paternal gene deleted

46
Q

Angelman

A

deletion of mother’s gene on chromosome 15, with normal paternal allele inactivation, leading to lack of genetic material
Angels miss their moms

symptoms:
seizure
ataxia 
inappropriate laughter
intellectual disability
"happy puppet"
MAMA
Maternal gene
Angelman
Mood
Ataxia
47
Q

Hardy-Weinberg

A 
p+q=1
p*p +2pq + q*q= 1
p*p= frequency of homozygous p
q*q= frequency of homozygous q
2pq= frequency of heterozygosity

STEP1 2015 (30 decks)

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