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MM 5 > Genetics SSN > Flashcards

Genetics SSN Flashcards

1
Q

CHEK2, BRCA1/2

A

breast cancer mutations

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2
Q

AD predisposition to arrhythmia

A

Long Qt syndrome

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3
Q

KCNQ1, KCNH2

A

treat with beta blockers

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4
Q

KCNH2

A

avoid hypokalemia

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5
Q

SCN5A

A

mexilitine and pacing to stop bradycardia

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6
Q

aggravated by exercise, adrenaline

A

Long QT 1

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7
Q

aggravated by sudden unexpected sound

A

Long QT 2 and 3

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8
Q

AD, repsonse to certain meds (anesthesia)

A

malignant hyperthermia

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9
Q

extra or missing chromosomes, most common reason for spontaneous abortion

A

aneuploidy

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10
Q

Trisomy 16 is ____ common than trisomy 21/22

A

more

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11
Q

most aneuploidy happenis in

A

oogenesis

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12
Q

Meiosis 1 errors are ____ common than meiosis 2 errors

A

much more common

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13
Q

chromosomes condense, centromeres separate, interphase Mts break down, spindle Mts assemble

A

prophase

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14
Q

nuclear envelope breaks down, Cr attach to spindle Mts and start to move

A

prometaphase

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15
Q

Cr align at spindle equator, metaphase plate, bipolar spindle assembly complete

A

metaphase

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16
Q

sister chromatids separate, spindle poles move apart

A

anaphase

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17
Q

daughters arrive at poles and decondense, nuclear envelope reassembles, contractile ring assembles

A

telophase

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18
Q

two new cells separate

A

cytokinesis

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19
Q

when no meitosis is happening

A

interphase

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20
Q

only in gonads, cells go from diploid to haploid

A

meiosis

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21
Q

males perform meiosis

A

life long

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22
Q

females perform meiosis

A

14 weeks into gestation

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23
Q

Meiosis 2 occurs in females

A

after gestation

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24
Q

cells commit to meiosis

A

leptotene

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25
Q

homologous pairs line up

A

zygotene

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26
Q

crossing over occurs, at least once per Cr, via chiasmata for proper segregation

A

pachytene

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27
Q

homologous chromosomes repel each other

A

diplotene

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28
Q

greatest contraction of chromosomes

A

diakinesis

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29
Q

homologs separate in

A

meiosis one

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30
Q

sister chromatids separate in

A

meiosis two

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31
Q

abnormal disjunction occurs in which phases

A

Anaphase, metaphase

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32
Q

in meiosis 1, both chromosomes pulled into one daughter cell together, giving one trisomic embryo and one monosomic embryo

A

true nondisjunction

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33
Q

in meiosis 1, both chromosomes pulled into same daughter cell separately (failure to pair)

A

achiasmate nondisjunction

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34
Q

no synapsis, no recombination, independent segregation of homologs

A

in achiasmic nondisjuction

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35
Q

one full and one half chromosome pulled into daughter cell

A

premature separation of sister chromatids

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36
Q

primary error source in meiosis

A

premature separation of sister chromatids

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37
Q

crossing over not at hotspots ____ chances of aneuploidy

A

increases

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38
Q

sister chromatid cohesion is facilitated by

A

cohesin

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39
Q

release of cohesion complexes from chromatin at meta/anaphase is facilitated by

A

separase

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40
Q

inhibits separase until ubiquinated by anaphase

A

securin

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41
Q

advanced maternal age associated aneuploidy is caused by

A

defective cohesion complexes

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42
Q

when some cells have different # of chromosomes in same tissue

A

mosiacism

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43
Q

mosiacism is caused by

A

Post-zygotic (mitotic) chromosome malformation

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44
Q

CdK, activated by cyclin and dephosphorylation to phosphorylate other proteins

A

cell cycle control system

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45
Q

Cdk-inhibitor OR ceased production of control system parts

A

override control system, as in cancer

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46
Q

prevent Cdc20 from interacting with APC/C cyclosome

A

checkpoint proteins

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47
Q

APC/C cyclosome sends securing and cyclin B to proteasome to

A

free separase (separate sister chromatids)

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48
Q

different mutations within same gene result in similar phenotype with varied severity

A

allelic heterogeneity (as in CF)

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49
Q

delta F508

A

most common CF mutation

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50
Q

causes defective prossessing so CTFR protein gets stuck in cell

A

delta F508

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51
Q

mutations within gene at different loci cause same phenotype

A

locus heterogeneity

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52
Q

hyperphenylalaninemia

A

example of locus heterogeneity, phenotypic heterogeneity

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53
Q

classic from in mutated PAH, other varients in BH4 metabolizing enzymes

A

hyperphenylalaninemia

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54
Q

one gene involved, different mutations in same gene result in very different phenotypes

A

phenotypic heterogeneity

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55
Q

different mutations in PAH gene may cause

A

very different severity of phenotype

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56
Q

most mutations, point and truncations

A

loss of function

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57
Q

50% of normal levels results in abnormal phenotype

A

haploinsufficiency

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58
Q

haploinsufficeincy example, causes hyperglycemia after a meal

A

mature onset diabetes of youth

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59
Q

gene becomes superactive or aquires new function

A

gain of function mutation (huntingtons)

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60
Q

more polyglutamine repeats causing earlier onset of disease (worse as inherited)

A

anticipation (huntingtons)

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61
Q

rare in humans, e.g. tempature sensitive mutations in androgen receptor

A

conditional mutations

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62
Q

50% of normal levels is poison (actively does something detrimental)

A

dominant negative mutation, e.g. osteogenesis imperfecta

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63
Q

AD mutatio nin procollagen gene, form defective collagen fibrils causing poor mineralization of bone

A

osteogenesis imperfecta

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64
Q

enzyme deficiency inheritance is almost always

A

AR, since 50% is usually sufficient

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65
Q

treat phenylalaninemia with restricted diet, other BH4-requiring end-products such as

A

serotonin, L-dopa

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66
Q

humans have this many pairs of chromosomes

A

23

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67
Q

how many base pairs per set of chromosomes

A

three billion

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68
Q

how many genes

A

twenty thousand, many more gene products

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69
Q

how many bases

A

five

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70
Q

purines, have three H bonds

A

G, C

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71
Q

pyramidines, have 2 H bonds

A

C, U, T

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72
Q

RNA has ____ on 2’ C, DNA has ____

A

hydroxy, H

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73
Q

5’ end, near transcription start site

A

promoter

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74
Q

contain coding sequence

A

exons

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75
Q

silent mutations are possible because

A

DNA code is redundant

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76
Q

always ATG (methionine)

A

start codon

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77
Q

UAA, UAG, UGG in humans

A

stop codon

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78
Q

polyA signal (AATAAA)

A

generates polyA tail in mature RNA

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79
Q

5’ cap added onto mature RNA

A

CAP site

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80
Q

GT

A

5’ splice site

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81
Q

A

A

branch site

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82
Q

AG

A

3’ splice site

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83
Q

Short non-mRNAs, loads RNA silencing complex (RISC), translational repression of mRNA or mRNA destruction

A

microRNA

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84
Q

pase pairs per histone

A

200

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85
Q

changes activity at different histones

A

methylation, acetylation

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86
Q

tightly packed, low transcriptional activity

A

heterochromatin

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87
Q

satellite DNA (tandem repeats clustered together) often found

A

heterochromatin

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88
Q

loose chromatin, high transcriptional activity

A

euchromatin

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89
Q

regulate genes nearby

A

Cis regulatory elements

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90
Q

can be far away, brought near by 3D folding

A

trans regulatory elements

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91
Q

may occur due to misalignement in mitosis, may lead to divergence of function e.g. globins

A

gene duplication

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92
Q

can move gene fragments around, e.g. hemophilia

A

transposable elements

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93
Q

transcript destroyed if stop codon inserted too early

A

Nonsense-mediated decay

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94
Q

disease prevalence

A

q squared

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95
Q

caculate carriers (heterozygotes)

A

2pq

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96
Q

point mutation example: from FGF receptor GOF mutation (g to A or C)

A

achondroplasia (also, cancer, due to defects in DNA proofreading or repair

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97
Q

repeat expansion examples

A

fragile X, huntington’s

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98
Q

reduced penetrance causes

A

induced by age (Huntington’s, colon cancer), sex-limited (male pattern baldness)

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99
Q

expressivity (severity) example

A

neurofibromatosis: cafe au lait spots

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100
Q

one genetic change, wide array of effects in multiple organ systems (e.g. Marfan’s, eye bone and heart)

A

pleitropy

101
Q

unfavorabley lyonization, homozygous, 45X or 46XY females

A

female shows phenotype in X-linked recessive conditions

102
Q

maternal inheritance, many children, many organs (esp. brain, heart, muscle), phenotype depends on heteroplasmy

A

mitochondrial inheritance

103
Q

mRNA detection, mRNA expression to deterine under or over expression of genes

A

Northern Blot, RNA by in situ hybridization

104
Q

protein detection, e.g. dystrophin in Duchenne’s muscular distrophy

A

Western Blot

105
Q

detect protein via fluorescent Ab in tissue

A

immunocytochemistry

106
Q

uses restriction enzymes to cut DNA and run on fluorescent gels to bind and visualize DNA fragments

A

southern blot

107
Q

southern blot probe must be

A

1000 bps long, or allele-specific oligonucleotides

108
Q

use for tandem repeats (huntingtons) large deletions, missense mutations

A

southern blot

109
Q

don’t use for missense mutation, deletion or transloacation may not be detected at restriction site or by probe

A

southern blot

110
Q

???

A

use PCR

111
Q

don’t use for allele dropout of enzyme, large deletions on only one chromosome

A

PCR

112
Q

can detect heterozygote deletion

A

quantitative PCR (multiple ligation primary annealing PCR)

113
Q

use: single bp or other small deletion, missense mutation, etc

A

genome sequencing

114
Q

don’t use for tandem repeats, copy number variations

A

genome sequencing

115
Q

don’t use for detecting missense and most other mutations

A

multiple ligation primary annealing PCR

116
Q

use for constitutional deletiona nd duplication for large scale mutations (chromosome imbalance) e.g. in cancers

A

comparative genomic hybridization

117
Q

don’t use for small mutations (current chip density is 3Mb)

A

comparative genomic hybridization

118
Q

detect gene expression and visualize via Manhattan plots

A

Genome-wide association studies

119
Q

can see heterozygote and homozygote missense mutations. Not used for mutations involving many base pairs

A

Genome-wide association studies

120
Q

Safer (.5% chance of miscarriage), done at week 16-20

A

amniocentesis

121
Q

Riskier (1%), but done at week 10-12

A

CVS

122
Q

classic example of at-birth genetic screening

A

phenylketonuria (PKU)

123
Q

true positives/(true positives + false negatives)

A

sensitivity

124
Q

higher sensitivity means fewer

A

false negatives

125
Q

true negatives/(true negatives + false positives)

A

specificity

126
Q

higher specificity means fewer

A

false positives

127
Q

changing gene expression patterns via DNA methylation and histone modification

A

epigenetics

128
Q

disease phenotype in Turner’s syndrome (XO) proves

A

some genes escape X activation

129
Q

dominant mechanism of X inactivation, transcribed but not translated

A

Xist

130
Q

areas of DNA that have high concentration of adjacent Cs and Gs

A

CpG islands

131
Q

methylation silences genes ____, by recruiting proteins that modify chromatin to block Tfs

A

indirectly

132
Q

propagates methylation pattern from parent cell to daughter cell

A

DNA methyltransferase

133
Q

when bad Xs die faster than they are replaced, so good X dominates

A

phenotypic rescue

134
Q

rescue example, where B cells only have good X activated

A

X-linked Agammaglobulinemia

135
Q

accidental activation of more of good X than bad in target tissue explains

A

why rarely a woman may have XlD Duchene’s muscular distrophy

136
Q

XlD that effects only females, because males die in utero, causes rapid neuropsychiatric decline in childhood

A

Rett’s syndrome

137
Q

silencing the expression of just one allele on a gene, depends on sex of parent who gave it

A

imprinting

138
Q

how does imprinting lead to disease?

A

it doesn’t. Disruptions in imprinting lead to disease

139
Q

materal imprint restricts growth, paternal imprinting speeds growth

A

Haig hypothesis

140
Q

Are most fetal genes controlling growth imprinted?

A

Nonsense-mediated decay

141
Q

disruption of imprinting due to loss or gain of methylation

A

epimutation

142
Q

empty egg with double-dose of dad’s imprinting genes

A

hydatidiform mole (tumor)

143
Q

promotes fetal growth, paternally activated (methylated) DMR region does not allow silencing CTCF to bind

A

IGF2

144
Q

caused by gain of function mutation that allows materal allele DMR region to be methylated

A

Beckwith-Weidmann Syndrome (giant baby with tumors)

145
Q

dad’s DMR region is not methylated; all IGF2 is restricted

A

Silver Russell Syndrome: severe interuterine growth restriction

146
Q

phenotypes of imprinting lesoins involve abnormal growth or behavior, not

A

anatomical malformations

147
Q

proportion of individuals carrying a gene variant who express a particular phenotype.

A

penetrance

148
Q

proportion of variance in phenotype expression in a populatoin that can be accounted for by genetics

A

heritability

149
Q

difference in concordance between monozugotic and dizygotic twins is attributed to

A

50% difference in genes

150
Q

genetic loci coordination with disease varies greatly why?

A

overestimation of heritability, rare variants with large impact not picked up, genome duplication/deletion not measured well

151
Q

polygenic disease example

A

obesity/type II diabetes, FTO and MC4R

152
Q

in mice, leptin mutations and feeding in first five weeks of life

A

influenced resulting phenotype

153
Q

inhibits appetite

A

leptin

154
Q

in urea cycle disorders, excrete hippurate using

A

sodium benzoate (diversion)

155
Q

in familial hypercholesterolemia, reduce bile saltes with ____ and inhibit HMG CoA reductase with ____

A

cholestyramine, statins (diversion)

156
Q

in hemochromatosis, use ____ to deplete excess iron

A

phlebotomy (depletion)

157
Q

In LDL recepter deficiency, use

A

plasmapheresis (depletion)

158
Q

in PKU, cofactor to increase enzyme activity

A

cofactor BH4

159
Q

in Gaucher, help mutant protein to fold correctly using

A

chaperone AT2101

160
Q

in MPS 1,2,4; Gaucher, Fabry and Pompe, use

A

protein replacement therapy

161
Q

treat hereditary agiodema (caused by mutation in esterase inhibitor)

A

danazol to increase expression

162
Q

treat sickle cell/thalassemia with ____ to decrease methylation of fetal Hgb

A

butryate

163
Q

treat dominant negatives with ____ to initiate degradation of mutant allele

A

RNAi

164
Q

due to loss of cells in anterior horn of spinal cord, caused by mutations in Survival Motor Neuron genes SMN1/2

A

Spinal Muscular Distrophy (no effect on cognition)

165
Q

When SMN1 lacks ____, it is unstable and rapidly degrades, leading to SMA

A

Exon 7

166
Q

this is used to enhance normal splicing of SMN1/2

A

SR

167
Q

use this to increase the expression of SMN2, lessening the phenotype severity

A

Sodium Phenylbutyrate

168
Q

treat nonsense mutations in CF and Duchenne MD with ____ that read through stop codons

A

aminoglycosides

169
Q

corrects delta508 mutations, allow mutant protein to not get stuck in RER, get to the cell surface

A

curcumin

170
Q

convert duchenne MD to becker MD, a less severe form

A

modify splicing to restore normal reading frame.

171
Q

transplantation treats

A

genetic diseases with single organ involvment

172
Q

treat hemoglobinopathies, immunodeficiencies, storage disorders

A

bone marrow transplant

173
Q

treat small amounts of cells in babies and kids

A

cord blood

174
Q

many inborn errors of metabolism

A

liver transplant

175
Q

treat fetus with cortisol to prevent virilizatoin of females and reduce shock due to low Na and high K

A

congenital adrenal hyperplasia, prenatal treatment

176
Q

gene addition is performed with

A

vectors: naked DNA, adenoviruses, oncoretroviruses, lentiviruses

177
Q

can correct single gene defects, can add new functions to cells, can increase immune response to cancer

A

gene addition

178
Q

abnormal beta globin

A

sickle cell disease, can be treated with gene therapy

179
Q

decreased or absent beta globin due to point mutations

A

beta thalassemia, can be treated with gene therapy

180
Q

normal immune function in 9/10 children, 3/10 developed leukemia due to insertion near oncogene

A

SCID severe combined immunodeficiency

181
Q

cerebral demyelination in children with enzyme deficiency, treated with lentivirus, no evidence of mutagenesis

A

adrenoleukodystrophy

182
Q

early onset blindness, focused on RPE65, inserted directly into eye to avoid mutation

A

leber congential amaurosis: restored light and some gross vision

183
Q

viral replication leads to infection, insertional mutagenesis, benign and malignant tumors, clonality

A

safety issues of gene therapy

184
Q

federal law stating that insurers and employers cannot discriminate based on genetic information

A

GINA

185
Q

Does GINA protect against discrimination in life insurance, disability insurance or long-term care?

A

No

186
Q

Robbery with a deadly weapon not excsued by 47 XYY aneuploidy

A

Millard v. State of Maryland

187
Q

successfully sued Arizona SU after blood samples donated for diabetes research were being used to research inbreeding and schizophrenia

A

Havasupai Tribe

188
Q

In NY, can patients be genetically tested without giving consent?

A

No

189
Q

doctors must

A

inform patients of risk, explain implications for family, offer services

190
Q

genetic information must be shared with family?

A

no, it is confidential to the individual

191
Q

hospital, doctor or testing company can be sued for ___ if a test is misread, leading to the birth of a baby that the parents would have wanted to abort

A

wrongful birth

192
Q

encourages private companies to invest in genetic research

A

argument for gene patenting

193
Q

lack of incentive to improve testing, high price, slow turn-around times, no means of independent conformation

A

argument against gene patenting

194
Q

is preimplantation genetic diagnosis regulated?

A

no, is now used for controversial traits such as gender selection

195
Q

Trisomy 21, 18, 13

A

Non-fatal autosomal aneuplodies

196
Q

maternal meiosis 1 non-disjunction, hypotonia, low ears, simian crease, tow space, declined cognitive development, risk of leukemia and heart defects

A

Trisomy 21, Down syndrome

197
Q

clenched fists, rocker bottom feet, small gestational aga, 90% heart defect, 10% 1 year survival

A

Trisomy 18, Edward Syndrome

198
Q

95% abort, 75% due to meiotic nondisjuntion, 20% translocations, holoprosencephaly, cleft lip and palate, eye problems

A

Trisomy 13, Patau Syndrome

199
Q

short, infertile, broad chest, webbed neck, 1:5000 female birth, 80% due to loss of pateral X

A

Monsomy X, Turner syndrome

200
Q

sterile, small testes, low testosterone, gynecomastia, tall, 1o point lowered IQ, 1:1000 males

A

XXY, Klinefelter’s syndrome

201
Q

Klinefelter with triple X

A

possible sterility

202
Q

Klinefelter with XYY

A

possible rediction in IQ, tall

203
Q

maternal age correlates with all aneuploidies except

A

45X and XYY

204
Q

chmsm 5p, chmsm 4p

A

deletion examples

205
Q

mewing cry, microcephaly, mental retardation

A

chmsm 5p, Cri-du Chat

206
Q

distinct face, 87% due to pateral de novo deletion

A

chmsm 4p, Wolf-Hirschhoron

207
Q

mitogens (PHA)

A

stimulates mitosis

208
Q

Colchicine

A

spindle poison, stops mitosis in metaphase

209
Q

route for banding, trypsin and giemsa

A

G banding

210
Q

R banding

A

G banding reversed

211
Q

centromeres and heterochromatin

A

C banding

212
Q

first method, quinacrine

A

Q banding

213
Q

short arm is called

A

p

214
Q

long arm is called

A

q

215
Q

size: acro is ___ than sub-meta is ___ than metacentric

A

smaller than

216
Q

Chmsm 1, 9,16, Y

A

large heterochromatic regions

217
Q

Chmsm 13, 14, 15, 21, 22 (also Y)

A

acrocentric

218
Q

how many proteins in the proteosome?

A

80-100000

219
Q

What’s worse, monosomy or trisomy?

A

monosomy

220
Q

have no gain or loss of genetic material

A

balanced translocations

221
Q

results in partial monosomy and partial trisomy

A

unbalanced translocations

222
Q

translocation of acrocentric chmsm, fusion at centromeres, and loss of short arm fusion

A

robertsonian translocation, carriers have 45 chmsm

223
Q

two breaks in one chmssm

A

inversion

224
Q

pericentric v. paracentric inversion

A

peri inludes the centrosome

225
Q

crossover leads to duplication/deletion of distal DNA

A

pericentric inversion

226
Q

crossover leads to acentric fragment and dicentric chmsm (both lethal to offspring)

A

paracentric inversion

227
Q

small centromere containing fragments from trisomy rescue

A

marker chmsm

228
Q

misegregations lead to duplications of shirt or long arm (and absence of counterpart) in daughter cell

A

isochromosomes

229
Q

Hybridzing DNA probes to pateints chromosomes: good for microdeletoins (~1Mb loss)

A

FISH: fluorescent in situ hybridization

230
Q

paternal deletion of 15q11.2, floppy at birth, hungry, underweight, small genitalia

A

Prader-Willi

231
Q

Maternal deletion of 15q11.2 innappropriately happy, speech delay, excitable

A

Angelman

232
Q

microdeletion of 22q11.2

A

DeGeorge

233
Q

FISH has subtelomere probes b/c

A

telomeres have highest concentration of genes, thus biggest impact of deletions

234
Q

FISH for CVS or amniocentesis

A

interphase fish, results in 1-2 days, v. 7-10 for conventional cytogenetics

235
Q

advanced maternal age, abnormal maternal serum (risk for trisomy 18 or 21), risk of neural tube defects, prenatal ultrasound abnormalities

A

use Interphase FISH

236
Q

limits of interphase FISH

A

reduced sensitivity, or recognizes most frequent abnormalities

237
Q

preimplantation genetic diagnosis is done with

A

polar bodies from oocytes, blastomeres from embryos

238
Q

what guides choice of FISH probes?

A

clinical phenotype

239
Q

scrape marker off of chromosome, use it to make probe

A

reverse FISH, very expensive

240
Q

spectral karyotyping

A

multicolored FISH

241
Q

stain normal chromosome with DAPI, label control and experiment

A

comparative genomic hybridization (CGH)

242
Q

only detectsimbalances greater than 3-10 Mb, depends on banding resolution which varies between preparations

A

CGH limitations

243
Q

like CGH but w/representative DNA sequences (not whole chromosomes) affixed to plate

A

microarrays

244
Q

small gains or deletions not seen with large probes, probes may skip site of gain/deletion,

A

microarray limitations

245
Q

detects greater than 100-200kb changes

A

BAC platform (microarray)

246
Q

detects greater than 1-100kb changes

A

oligonucleotide platform (microarray)

247
Q

single neucleotide polymorphism olionucleotide microarray analysis

A

SOMA

248
Q

benign variation, aneuploidy, partial aneuploidy, microdeletions and duplications far below traditional thresholds, long stretchs of homozygosity,

A

SOMA

MM 5 (3 decks)

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