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MM 5 > Genetics SSN 2 > Flashcards

Genetics SSN 2 Flashcards

1
Q

oocytes formed as

A

fetus

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2
Q

female meiotic prophase at

A

14 weeks gestation

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3
Q

first meiotic division stops at ____, resumes/completes at ovulatoin

A

diplotene (when homologs repel)

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4
Q

meiosis II happens after

A

fertilization

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5
Q

Chromosomes 13, 14, 15, 21, 22

A

acrocentric (look one-armed)

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6
Q

Chromosomes 1,9,16, Y

A

heterochromatic region (tightly coiled, polymorphic)

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7
Q

repeats of ribosomal genes, polymorphic, acrocentric

A

satellite region

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8
Q

repeated info in the centromere

A

alpha satelite

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9
Q

repeated info just next to centromere

A

classical satellite

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10
Q

first unique sequence just next to telomere

A

telomeric sequences

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11
Q

large region colored (unique gene sequences)

A

repeated region

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12
Q

visually compares sample DNA to control DNA

A

CGH: comparative genomic hybridization

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13
Q

noninvasive prenatal testing

A

sample fetal DNA in maternal blood

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14
Q

copy DNA using normal and dideoxynucleotides, ddn are marker and tell you last nucleotide in sequence

A

sanger sequencing

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15
Q

characterized by expansion of a CGG triplet repeat in the first exon of the FMR-1 gene on the long arm of the X chromosome

A

fragile X syndrome

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16
Q

usually involve acrocentric chromosomes, which cluster together during meiosis.

A

robertsonian translocations

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17
Q

effects number of copies of all chromosomes

A

-ploidy

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18
Q

effects number of copies of individual chromosomes

A

-somy

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19
Q

most common genetic anomaly in still-births, 10% one year survival

A

Trisomy 18

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20
Q

brushfield spots, GI obstruction, Alzheimer’s

A

additional complications of Down syndrom

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21
Q

only mild sterility, learning disabilities with speech

A

triple X

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22
Q

tall, thin, slight IQ reduction, low testosterone, sterile, breast growth

A

Klinefelter XXY

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23
Q

tall, acne, mild IQ reduction, no aggression increase

A

Klinefelter XYY

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24
Q

Greek warrior helmet

A

4p deletion Wolf Hirschhorn

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25
Q

Wolf Hirschorn and Cri du Chat are

A

partial deletions

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26
Q

Prader-Willi, Angelman, Williams, DiGeorge are

A

microdeletions (<1Mbp)

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27
Q

Paternal copy of 15q11.2 deleted

A

Prader-Willi

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28
Q

Maternal copy of 15q11.2 deleted

A

Angelman

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29
Q

Chromosome 7 microdeletion

A

Williams

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30
Q

Chromosome 22 microdeletion

A

DiGeorge

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31
Q

translocation where an acrosome is lost

A

robertsonian

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32
Q

When the information in region 15q11-q13 is derived only from a mother (either via uniparental disomy (both chromosomes from a single parent) or deletion on the paternal chromosome

A

Prader-Willi syndrome (the maternally imprinted chromosome is unable to express its genetic information )

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33
Q

consists mainly of a satellite and a thin stalk, containing multiple copies of genes encoding ribosomal RNAs

A

short arm of an acrocentric chromosome

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34
Q

therapies that increase fetal hemoglobin may help these patients

A

Sickle-cell

35
Q

both forms of hemophilia B are

A

promoter mutations

36
Q

triplet that increases in earlier onset Huntingtons

A

CAG

37
Q

genetic variations present at a particular locus

A

allele

38
Q

deletions of alpha chain hemoglobin, 2 genes per chromosome, more deletions, more severe phenotype

A

alpha thalessemia

39
Q

large population, random mating, no selection, mutation rate is constant, no im/emigration

A

Hardy-Weinberg assumptions

40
Q

Heterozygote advantage of the AS genotype manifests as

A

better resistance to malaria

41
Q

one locus, multiple normal alleles

A

polymorphism

42
Q

when calculating odds of AR transmission, don’t forget

A

times one-half per parent (odds they will pass it)

43
Q

different mutations in the SAME GENE cause similar phenotypes

A

allelic heterogeneity

44
Q

different mutations in the SAME GENE cause different phenotypes

A

phenotypic heterogeneity

45
Q

different mutations in DIFFERENT GENES cause same phenotype

A

locus heterogeneity

46
Q

incomplete penetrance, variable expressivity, de novo mutation, germline mosaicism

A

AD pedigree problems

47
Q

Known, micro: polymorphisms, insertions, deletions, NO heterozygotes

A

PCR

48
Q

known, micro: deletions in heterozygotes

A

MLPA

49
Q

known, macro: large scale deletions (>100bp)

A

Southern Blot

50
Q

unknown, micro: determines sequence, NO short tandem repeats or copy-number variation

A

genome sequencing

51
Q

unknown, micro: finds disease-causing genes, but stats may not be clinically useful (may identify marker, not gene of cause)

A

GWAS (Manhattan plots)

52
Q

unknown, macro: detects chromosome-level changes such as copy number variation, NO <1 Mb

A

CGH (comparing sick and health genomes)

53
Q

mRNA expressiong heatmapping, gene expression profile (cancer), BUT destroys architecture, can’t distinguish if expression is tumor cell or other cell

A

microarray

54
Q

stains mRNA in tissue, can see gene expression in intact cells, but only a few at a time

A

RNA in situ hybridization

55
Q

use antibody probe to determine if protein is being expressed, is right size, but destroys architecture

A

western blot

56
Q

stain for protein with architecture intact, but can’t detect protein size

A

immunocytochemistry

57
Q

sequence of 1-6 bps repeated many times

A

short tandem repeat (microsatellite)

58
Q

sequence of 10-100bps repeated many times

A

variable tandem repeat (minisatellite)

59
Q

good for CNVs but not microsatellites

A

array CGH. Use PCR and Sanger sequencing instead

60
Q

detected with Guthrie assay (extra Phe on sample leads to bacterial growth)

A

PKU

61
Q

detected with tandem mass spectrometry, avoid fasting!

A

MCADD

62
Q

helps you rule out a disease

A

sensitivity (SNOUT)

63
Q

helps you rule in a disease

A

specificity (SPIN)

64
Q

methylation in a promoter region causes

A

DNA silencing

65
Q

acetylation in a promoter region causes

A

increased DNA expression

66
Q

still expressed on inactive X, helps to shut the X down

A

Xist

67
Q

Mom wants it off, dad wants it on

A

Gene IGF2 (chromosome 11)

68
Q

Mom wants it on, dad wants it off

A

Gene H19 (chromosome 11)

69
Q

Oops, Mom turned IGF2 on (H19 normal)

A

Beckwith-Wiedemann: big baby

70
Q

Oops, Dad turned on H19 (IGF2 normal)

A

Russell-Silver: small baby

71
Q

imprinting diseases with epimutations

A

Russel-Silver, Beckwith-Weidman

72
Q

imprinting diseases with real mutations

A

Prader-Willi, Angelman

73
Q

mother’s allele is normally off (chromosome 15)

A

Prader-willi (need to get from dad)

74
Q

father’s allele is normally off (chromosome 15)

A

Angelman (need to get from mom)

75
Q

will have more methylation (which inactivates gene expression) and less acetylation (which activates gene expression)

A

inactive X chromosome

76
Q

growth restricted genes are imprinted by

A

dad (to imprint=to turn OFF)

77
Q

if monozygotic twins share a trait more often than dizigotic twins, that trait is

A

heritable

78
Q

two genes segregate together due to proximity; one SNP is used to score a refion

A

linkage disequilibrium

79
Q

under certain enviromental conditions, one genotype’s phenotype resembles another

A

phenocopy

80
Q

different genes causing same phenotype (early and late onset Alzheimer’s, 18 genes responsible for cilia defects in Bardet-Beidl phenotype)

A

Genetic heterogeneity

81
Q

smoking worsens prognosis in

A

alpha1 anti-trypsin disorder

82
Q

In OI, missense mutation in α1 can lead to qualitative abnormalities in

A

¾ of type 1 collagen strands. Because of there are 2 α1 strands and 1 α2 strand in each collagen fibril, a mutation in α1 will cause defects in ¾ of the fibrils

83
Q

The treatment for this condition is prenatal administration of cortisol, which prevents excess androgen production

A

congential adrenal hyperplasia

84
Q

correct gene defects by gene addition, contain RNA

A

lentivirus vectors

MM 5 (3 decks)

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