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J's Deck > Genetics > Flashcards

Genetics Flashcards

1
Q

trinucleotide expansion: friedrich ataxia

A

GAA

ataxic GAAit

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2
Q

Angelman

A

MAMA

  • maternal deleted (dad silenced)
  • laughter
  • ataxia
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3
Q

repair damaged strand by using a complementary strand from intact homologus

A

homologus recombination

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4
Q

anticipation

A

increased severity or earlier onset of disease in later generations

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5
Q

trinucletodie expansion: fragile x

A

CGG

chin
giant
gonads

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6
Q

pleiotrophy

A

1 gene contributes to MANY phoenotypes

e.g. PKU, homocysterinuria

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7
Q

splice site mutation

A

alters intron removal from pre-mrna

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8
Q

nonsense mutation

A

codes for premature stop codon

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9
Q

loss of heterozygosity

A

2 hit hypothesis of tumour spressors

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10
Q

dominant negative mutation

A

nonfuncitonal altered protein also prevents normal gene product from funcitonin

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11
Q

base excision repair (non bulky)

A

GEL PLease

  • glycosylase
  • endonucleause (5’ end)
  • lyase (3’ end)
  • DNA polymerase B
  • ligase

spontaineous, toxic deamination

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12
Q

variable expressivity

A

patients with same genotype with DIFFERENT phenotypes

e.g. NF1

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13
Q

uniparental disomy

A

offspring gets 2 copies of chromomse from 1 parents (and none from the other –> can cause problems due to imprinting)
heterodIsomy (heterozygous): meiosis I error
IsodIsomy (homozygous): meiosis II error

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14
Q

nonhomologous end joining

A

ataxia telangiectasia

  • blanching nests of distended capillaries
  • recurrent sinupulmonary infections
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15
Q

ataxia telangiectasia

A

nonhomologous end joining

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16
Q

gonadal mosaicism

A

mutation only in egg or sperm

-suspect if parents and relatives do not have disease

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17
Q

nonstop mutation

A

base subsitution within stop codon results in continued translation

18
Q

trasversion mutation

A

purine to pyrimidine

pyrimidine to purine

19
Q

Lynch

A

mismatch repair

20
Q

homologous recombination

A

BRCA

Fanconi anemia

21
Q

trinucleotide expansion: myotonic dystrophy

A

CTG

cataracts
toupee (bald)
gonadal atrophy

22
Q

conservative mutation

A

base codes for different a.a. with similar structure

23
Q

mosaicism

A

present of genetically distinct cell lines in same individual

24
Q

allelic heterogeneity

A

DIFFERENT mutations in SAME locus produce SAME phenotype

b-thalassemia

25
Q

somatic mosaicism

A

mutation arises from mitotic errors AFTER fertilization, propgates through multiple tissues or organs

26
Q

BRCA

Fanconi anemia

A

homologus recombination

27
Q

spontaneous toxic deamination

A

base excision repair

28
Q

locus heterogeneity

A

mutations at DIFFERENT loci can produce SIMILAR phenotype

albinism, marfanoid, familial hypercholesterolemia

29
Q

mismatch repair (wrong base)

A

Lynch syndrome

30
Q

transition mutation

A

purine to purine

pyrimidine to pyrimidne

31
Q

Prader Willi

A

POP

  • paternal deleted (mom silenced)
  • over eating
  • hypotonia
  • intellectual disability
32
Q

nucleotide excision repair (bulky)

A

xeroderma pigmentosum

33
Q

frameshift mutation

A

deleting or adding a number of bases that is NOT divisible by 3

34
Q

base-specific glycosylase removes the bad base

non-bulky

A

base excision repair

35
Q

a new strand is made, then mismatched nucleotides are removed

A

mismatch repair

36
Q

heteroplasmy

A

presence of both normal + mutated mtDNA –> get variable expression in mito-inherited diseases

37
Q

endonuclease release oligonucleotides with damaged bases

bulky

A

nucleotide excision repair

38
Q

join 2 ends of DNA fragments to repair DS breaks

A

nonhomologous end joining

39
Q

incomplete penetrance

A

risk of expressing phenotype = % penetrance x prob of inheriting genotype

40
Q

xeroderma pigmentosum

A

nucleotide excision repair

41
Q

linkage disequilibrium

A

tendency for certain alleles at 2 linked loci to occur toether more or less often than expected by chance

42
Q

trinucleotide expansion: Huntington

A

CAG

caudate, Ach, Gaba

J's Deck (18 decks)

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