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Genetics 2 > clinical DNA dx > Flashcards

clinical DNA dx Flashcards

exam 2

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1
Q

single nucleotide base is changed

A

point mutations

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2
Q

replace one aa with another

A

missense mutation

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3
Q

create a premature stop codon

A

nonsense mutation

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4
Q

same aa produced despite difference in DNA sequence

A

silent mutation

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5
Q

absence of a portion of DNA sequence

A

Deletion

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6
Q

a constellation of findings due to a specific deletion the encompasses several genes

A

microdeletion

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7
Q

not visible karyotype

A

microdeletion

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8
Q

type of insertion due to repeated regions of DNA, often hole genes

A

duplications

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9
Q

duplications have to happen right next to each other?

A

no! may happen in tandem or sited elsewhere in the genome

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10
Q

Charcot-Marie tooth

A

duplication of PMP22 on chromosome 17

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11
Q

Williams beurene syndrome

A

chromosome 7 microdeletion

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12
Q

mutations that result in extra DNA sequence

A

insertion

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13
Q

frameshift mutations can occur by mutiple issues

A
  • deletions -insertions -splicing errors
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14
Q

affect binding of RNA pol to promoter site

A

promoter mutations

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15
Q

frigle X, mytoninc dystrophy, Hnt’ disease

A

trinucleotide repeat expansion

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16
Q

Anticipation

A

expansion of the repeat throughout generations

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17
Q

null mutations

A

loss of function

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18
Q

PKU

A

null mutations

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19
Q

haploinsufficiency

A

Autosomal Dominant

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20
Q

half of normal product is insufficient for normal function

A

haploinsufficiency

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21
Q

familial hypercholesterolemia

A

haploinsufficiency

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22
Q

dominant negative

A

autosomal dominant

23
Q

mutant protein interferes with function of the protein produced by the normal allele

A

dominant negative

24
Q

marfan syndrome

A

dominant negative

25
Q

usually due to a very particular change in the gene

A

gain of function

26
Q

achondroplasia

A

gain of function

27
Q

FGFR3 mutations

A

receptor is stuck in the “on” position, which prevents chondrocytes proliferations

28
Q

Challenges of testing (6)

A

(1) Genetic heterogeneity (2) allelic disorder (3) variable expression (4) non-paternity (5) concerns regarding genetic discrimination (6) mitochondria

29
Q

DNA Specimens- sources

A

White blood cells- dna only found in WBC

30
Q

>3MB test

A

karyotype

31
Q

detects known submicroscopic deletion and duplication syndromes

A

FISH

32
Q

22q11.2

A

Di George

33
Q

angelman/Prader-willi test

A

bisulfite DNA testing

34
Q

UBE3A

A

gene for angelman

35
Q

sweat test

A

Gold standard for CF

36
Q

allele specific oligonucleotide testing for

A

CF to identify the delta F508 or other common mutations related to this disease

37
Q

paternity test

A

short tandem repeat polymorphisms

38
Q

multiple ligation-dependent probe amplification

A

deletions in a gene

39
Q

conservative missense mutations

A

properties of the amino acid remain the same

40
Q

non-conservative missense mutations

A

properties of the AA are different

41
Q

large deletions often result in the loss of ________

A

multiple contiguous genes

42
Q

some crohn’s disease are associated with an

A

insertion mutation

43
Q

what is usually the outcome of a frameshift mutation

A

stop codon introduced leading to a truncated polypeptide

44
Q

can result in reduced production of mRNA and decreased production of a protein

A

promoter mutations

45
Q

causes premature aging and bone marrow disease

A

dyskeratosis congenita

46
Q

null mutations are

A

classic autosomal recessive

47
Q

null mutations lead to

A

loss of function

48
Q

example of genetic heterogeneity

A

kidney disease caused by multiple genes

49
Q

different disorders can result from mutations in the same gene

A

allelic disorder

50
Q

In Multiple ligation-dependent probe amplification, multiple______ can be amplified at _____ and run out of a gel to determine __________ of region

A

In MLPA, multiple exons can be amplified at once and run out on a gel to determine presence of region

51
Q
A

Silent mutation

52
Q
A

deletion mutation

53
Q
A

FISH analysis

Genetics 2 (7 decks)

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