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M2M > Unit 2 > Flashcards

Unit 2 Flashcards

1
Q

In autosomal dominant inheritance, the odds of an offspring inheriting the disease allele is ____

A

50%

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2
Q

In autosomal dominant inheritance, all affected individuals have ____ parent(s) with the disease allele

A

at least one

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3
Q

In autosomal recessive inheritance, parents of an affected person must be either _____ or _____

A

carriers

diseased

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4
Q

Recessive diseases tend to _____ generations

A

skip

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5
Q

Autosomal dominant diseases tend to _____ generations

A

be present in all

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6
Q

In X-linked dominant inheritance, _____ can be affected

A

females and males

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7
Q

In X-linked inheritance, an affected male will pass disease allele to _____ but not to _____

A

All daughters

any sons

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8
Q

In X-linked recessive inheritance, males with a single copy of disease allele are affected because _____

A

males are hemizygous for X-linked genes

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9
Q

_____ describes whether a person with disease genotype will have disease phenotype

A

penetrance

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10
Q

_____ describes the severity (variation) in phenotype when disease genotype is present

A

expressivity

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11
Q

_____ describes when a single disease genotype results in multiple, unrelated disease phenotypes

A

Pleiotropy

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12
Q

_____ diseases are associated with reduction of males in pedigree due to lethality

A

X-linked dominant

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13
Q

In _____ inheritance, females are usually carriers

A

X-linked recessive

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14
Q

The rate of SNPs between two people is _____

A

1/1000

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15
Q

human genome sequencing focused on _____ regions of genome

A

euchromatic

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16
Q

_____ percent of the genome is translated

A

1.5

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17
Q

_____ percent of genome has genes (introns/exons)

A

20-25

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18
Q

_____ percent of genome has single copy sequences

A

50

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19
Q

_____ percent of genome has repeat sequences

A

40-50

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20
Q

Tandem repeats are found in _____, _____, and _____

A

genome
heterochromatic regions
centromeric regions

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21
Q

The 2 classes of repetitive DNA are _____

A

tandem repeats

dispersed repetitive elements

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22
Q

_____ describes genes that have high sequence similarity and that carry out similar but distinct functions

A

gene families

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23
Q

gene families arise from _____ and facilitate genomic innovation

A

gene duplication

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24
Q

CNVs increase genomic diversity but lead to many diseases because _____

A

they are unstable parts of genome

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25
Q

the major limitation of current sequencing/genotyping is ____

A

highly duplicated/repeated regions of genome are unexamined

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26
Q

_____ describes how in complex diseases, SNPs only account for a small fraction of expected genomic contribution

A

missing heritability

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27
Q

_____ describes presence of cells with different genotypes in a single organism

A

mosaicism

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28
Q

The clinical features of Trisomy 21 (down syndrome) are _____

A 
distinct facial features
short stature
hypotonia (low muscle mass)
intellectual impairment
cardiac defects
leukemia
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29
Q

The clinical features of Trisomy 18 (edward syndrome) are _____

A

small size
rocker-bottom feet
clenched fingers

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30
Q

The clinical features of Trisomy 13 (patau syndrome) are _____

A

distinct facial features
intellectual impairment
congenital malformations

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31
Q

What are the 5 possible mechanisms of structural chromosomal rearrangements?

A 
Insertion
Deletion
Inversion
Reciprocal Translocation
Duplication
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32
Q

There is no loss of genetic material in _____ chromosomal rearrangements

A

balanced

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33
Q

In reciprocal translocation, _____ segregation results in balanced progeny, while _____ segregation results in unbalanced progeny

A

alternate (normal+abnormal)

adjacent (abnormal)

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34
Q

The overall risk of balanced parents having unbalanced progeny is _____

A

0-30%

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35
Q

_____ describes variations in gene expression not due to DNA sequence changes

A

epigenetics

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36
Q

DNA and histone _____ mediates gene silencing (usually). These are both examples of _____

A

methylation

epigenetics

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37
Q

DNA methylation marks are reset in _____ and reestablished during _____

A

primordial germ cells

gametogenesis

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38
Q

This enzyme mediates propagation of epigenetic marks in somatic cells

A

Maintenance methyltransferase

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39
Q

When the maternal allele is imprinted, the _____ allele is expressed

A

paternal

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40
Q

Give 2 examples of disorders associated with genetic imprinting

A

Prader-Willi

Angelman

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41
Q

PWS and AS are due to deletions in chromosome _____

A

15q11-13

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42
Q

PWS region of 15q11-13 is expressed only on _____

A

paternal chromosome

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43
Q

AS region of 15q11-13 is expressed only on _____

A

maternal chromosome

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44
Q

_____ determines sex-specific expression pattern on 15q11-13

A

imprinting center

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45
Q

_____ describes inheriting both alleles of a gene from a single parent

A

uniparental disomy

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46
Q

maternal uniparental disomy can cause _____

A

PWS

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47
Q

In childhood B-cell ALL, _____ is correlated with a good prognosis, while _____ is correlated with a poor prognosis

A

hyperdiploidy

hypodiploidy

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48
Q

FISH uses fluorescently tagged _____ to target _____ or _____

A

single-stranded DNA
specific chromosomes (identify #)
regions/bands of chromosomes (identify translocations)

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49
Q

_____ (FISH probe) is used for _____ in _____

A

centromere (cen)
enumeration
ALL

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50
Q

_____ (FISH probe) is used for _____ in _____

A

dual fusion, fusion (DF/F)
translocation
BCR:ABL & PML:RARa

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51
Q

In APML, fusion of _____ (genes) codes for a novel transcription factor that ____ differentiation/transcription

A

PML:RARa

represses

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52
Q

_____ is a treatment for APML because it recruits _____ that prevents repression of transcription

A

retinoic acid

coactivators

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53
Q

In CML, fusion of _____ (genes) codes for a novel tyrosine kinase that results in _____

A

BCR:ABL

cell proliferation

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54
Q

_____ is a treatment for CML because it binds to _____ of BCR:ABL and inhibits cell proliferation

A

Gleevec

ATP-binding site

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55
Q

Describe how CMA works

A

Put probes on array, add target single-stranded DNA. detect CNVs. Compare to reference CNVs.

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56
Q

CMA cannot detect _____

A

balanced rearrangements

mosaicism (

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57
Q

What are 3 examples of balanced rearrangements?

A

Inversions
Reciprocal translocations
Robertsonian translocations

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58
Q

_____ inversions include the centromere, while _____ inversions exclude the centromere

A

Pericentric

Paracentric

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59
Q

_____ translocations result from breakage+rejoining of non-homologous chromosomes

A

Reciprocal

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60
Q

_____ translocations result in fusion of two acrocentric chromosomes within their centromeric regions (loss of both short arms)

A

Robertsonian

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61
Q

The chromosomal abnormality in DS is usually _____

A

Trisomy 21

62
Q

The risk for errors of _____ increases with rising maternal age

A

nondysjunction

63
Q

What are the physical features of DS?

A 
midfacial hypoplasia
upslanting palpebral fissures
small ears
large tongue
hypotonia
transverse palmar crease
short fingers
64
Q

What medical issues are associated with DS?

A

Cardiac (AV canal)
GI (atresia, constipation, feeding, GERD)
Ophthalmic (myopia, strabism, nystagmus, blocked tear ducts)
ENT (deafness, apnea, ear inf., nasal congestion)
Endocrine (thyroid disease, infertility, diabetes)
Orthopedic (subluxation)
Hematologic (leukemia, anemia)

65
Q

What developmental/behavioral issues are associated with DS?

A 
impaired motor development
intellectual disability
speed problems
depression
alzheimer's
autism
66
Q

What are the physical features of PWS?

A

dysmorphic (almond eyes, undescended testicles)
hypotonia
light pigmentation

67
Q

What medical issues are associated with PWS?

A

Feeding issues (need tube, become obese)
Opththalmic (strabismus, nystagmus)
Orthpedic (scoliosis)
ENT (apnea)

68
Q

What developmental/behavioral issues are associated with PWS?

A

intellectual disability
antagonistic behavior
insatiable desire to eat

69
Q

List 2 other chromosomal abnormalities associated with 15q11-13

A 
IDIC 15 (supernumerary marker)
15q interstitial duplication (maternally inherited)
70
Q

_____ is the study of differences in drug response due to allelic variation in genes affecting drug metabolism, efficacy, and toxicity

A

pharmacogenetics

71
Q

_____ is concerned with the assessment of common genetic variants in the aggregate for their impact on the outcome of drug therapy.

A

pharmacogenomics

72
Q

_____ is the rate at which the body absorbs, distributes, metabolizes, or excretes drugs/metabolites.

A

pharmacokinetics

73
Q

_____ is the response of the drug binding to its targets and downstream targets. (i.e. what happens)

A

pharmacodynamics

74
Q

Phase I metabolism involves attaching a _____ group to compound to make it more _____

A

polar

soluble

75
Q

Phase II metabolism involves attaching a _____ group to compound to make it more _____

A

sugar/acetyl

easily excreted

76
Q

The CYP450 complex is active mainly in the _____ and to some extent in the _____

A

liver

intestinal epithelium

77
Q

Most CYPs function to _____ drugs, but _____ is an exception

A

inactivate

CYP2D6 (codeine–>morphine)

78
Q

CYP3A: _____ (substrate), _____ (mechanism), _____ (activators/inhibitors)

A

cyclosporine
genetically less important
rifampin (activator)
ketoconazole+grapefruit juice (inhibitor)

79
Q

CYP2D6: _____ (substrates)

A

codeine

80
Q

CYP2C9: _____ (substrate)

A

warfarin

81
Q

NAT: _____ (drug)

A

isoniazid for TB

82
Q

TMPT: _____ (drugs), _____ (notes)

A

6-mercaptopurine + 6-thioguanine

for ALL

83
Q

G6PD: _____ (drugs), _____ (mechanism), _____ (notes)

A

sulfonamide+dapsone
X-linked enzyme
deficiency causes anemia

84
Q

VKORC1: _____ (drug)

A

warfarin

85
Q

What are the assumptions of Hardy-Weinberg?

A 
large population
random mating
no mutations
no selection
no population movement
86
Q

Increased variation through sexual reproduction occurs via _____ and _____

A

haploid gametes

recombination in meiosis

87
Q

Gonad determination is _____

A

chromosomal (presence/absence of Y)

88
Q

describe embryology of dimorphic reproductive organs

A

wk4: primordial germ cells form in wall of yolk sac.
wk5: coelomic epithelium becomes genital ridge
wk6: primordial germ cells migrate to dorsal mesentary of hindgut and enter gonad. epithelium of gonadal ridge form primitive sex cords.

89
Q

What are the clinical features of Turner Syndrome (45, XO)?

A 
short
webbed neck
cystic hygroma
puffy hands/feet
infertility
low-set ears
broad chest
cubitus valgus
90
Q

What are the clinical features of Kleinfelter Syndrome (47, XXY)?

A 
tall
small testes
infertility
gynecomastia
reduced hair
91
Q

What are the clinical features of Jacobs Syndrome (47, XYY)?

A

tall
autism
learning/developmental issues
behavioral/emotional issues

92
Q

What are the clinical features of Triple X Syndrome (47, XXX)?

A

tall
learning/developmental issues
seizures
kidney issues

93
Q

what are the characteristics of multifactorial inheritance traits?

A

incomplete penetrance
variable expressivity
heterogeneity (allele+locus)
phenocopies

94
Q

A higher concordance rate for disease in monozygotic twins than in dizygotic suggests that _____

A

genetic variation is a more significant risk factor than non-genetic factors

95
Q

_____ describes the proportion of total variance in a trait that is due to variation in genes

A

heritability

96
Q

What are the 3 types of DNA polymorphisms used for finding disease genes?

A

CNVs
SNPs
microsatellites

97
Q

describe candidate gene association studies

A

need prior hypothesis/markers
prone to false-positives
used for common alleles with small/moderate ORs
done in case-control studies
can’t do multiple-testing correction, can’t ethnically match cases/controls, stratification effects

98
Q

Describe genetic linkage studies

A

no hypothesis needed
search genome for regions co-inherited with disease in families
used for mendelian traits

99
Q

Degree of recombination per meiosis event is measured in _____

A

centiMorgans (cM)

100
Q

_____ is a statistical measure of genetic linkage

A

LOD (>3 = proof of linkage)

101
Q

Describe GWASs

A

search for SNPs across entire genome
used for common alleles with small/moderate ORs
can do multiple-testing correction and stratification correction
done in case-control studies
requires follow-up study for specific SNPs of interest

102
Q

In Autosomal Recessive diseases, the majority of mutant alleles are present in _____

A

carriers

103
Q

_____ describes multiple, different mutant alleles of a single gene

A

allelic heterogeneity

104
Q

A _____ carries two different mutant alleles of a single gene. The phenotype is usually _____

A

compound heterozygote

moderate

105
Q

Describe biochemical defects of PKU

A

mutation in PAH or mutation in BH4 (coactivator) that result in excess Phe buildup and damage to CNS

106
Q

PKU screening is done via _____

A

mass spect

107
Q

Newborns must be screened for PKU _____ so that _____ is no longer present to give false negative result

A

a few days after birth

maternal PAH

108
Q

Treatment for PKU is _____

A

low Phe diet for entire life

109
Q

describe phenotype and ecogenetics of ATD

A

emphesyma+liver problems (bc of misfolded protein buildup)

smoking increases severity and causes earlier onset

110
Q

normally, α1-antitrypsin inhibits _____, thus a mutation causes degradation of too much _____

A

elastase

elastin

111
Q

The _____ mutant allele for ATD is the most severe, while the _____ allele is the least severe.

A

Z

S

112
Q

describe biochemical defects of T-S

A

mutation in HexA (α subunit) prevents degredation of GM2 ganglioside in neuronal lysosomes.

113
Q

In Sandhoff disease, mutation in _____ affects both HexA and HexB

A

β subunit

114
Q

In AB variant of T-S, HexA and HexB are _____ but GM2 accumulates due to mutation in _____

A

GM2 activating protein (GM2-AP) that mediates binding between HexA and GM2

115
Q

carrier and prenatal screenings for T-S are done for _____ population using _____

A

Ashkenazi Jew

enzyme assay

116
Q

_____ controls expression pattern of globin genes

A

Locus Control Region (LCR)

117
Q

What is the expression order for α cluster of globin genes?

A

ζ –> α2 + α1

118
Q

What is the expression order for β cluster of globin genes?

A

ε (embryonic)
γG + γA (fetal)
δ + β (adult)

119
Q

HBA2 is _____ form of hemoglobin in adults and HBA is the _____ form

A

minor

major

120
Q

In sickle cell, mutation in _____ creates _____, which is less soluble and forms fibers that cause sickle shape in RBC

A

β globin (E6V)

HbS

121
Q

In hemoglobin C, mutation in _____ creates ____, which is less soluble and form crystals that don’t change shape of RBC

A

β globin (E6K)

122
Q

Sickle cell is diagnosed using _____

A

RFLP (loss of restriction site)

123
Q

α-Thalassemia 1 is most prevalent in _____ and its genotypes are _____ and _____

A

southeast asia
αα/– (mild. α-thal 1 trait)
–/– (hydrops fetalis)

124
Q

α-Thalassemia 2 is most prevalent in _____ and its genotypes are _____ and _____

A

africa, med, asia
α-/α- (mild. α-thal 2 trait)
αα/α- (silent carrier)

125
Q

The compound heterozygote genotype for α-thalassemia is _____

A

α-/– (severe. HbH disease)

126
Q

Thalassemia major vs. thalassemia minor

A

major: severe disease phenotype
minor: mild disease / carrier

127
Q

Simple thalassemia vs. complex thalassemia

A

simple: mutations/deletions affect only β globin gene
complex: mutations/deletions affect multiple genes in β cluster

128
Q

β+ thalassemia vs. β0 thalassemia

A

β+: some β globin is made. some HbA present.

β0: no β globin made. no HbA.

129
Q

describe HPFH

A

no β or δ globin synthesis. Instead, γ globin synthesis continues bc 1) deletions cause enhancers to be closer to γ-globin gene or 2) mutations in promoter of γ-globin prevent repression of its synthesis

130
Q

HPFH patients do not have disease because _____

A

HbF replaces action of HbA and HbA2

131
Q

Describe Achondroplasia

A 
AD (80% de novo)
small stature
short limbs
GoF mutation in FGFR3.
Enhances limitation of bone formation from cartilage.
paternal age effect.
132
Q

Describe Neurofibromatosis Type 1

A 
AD (50% de novo), Var Exp.
neurofibromas
Lisch nodules
cafe-au-lait spots
LoF mutation in NF1.
lose tumor suppression activity.
Need both alleles to be mutant.
133
Q

Describe Tuberous Sclerosis

A 
AD (66% de novo), Var Exp.
angiofibroma
cortical dysplasia
cardiac rhabodmyoma
LAM lung disease
Shagreen patch
Ungual Fibroma
LoF mutation in TSC1 or TSC2.
lose cell growth/division regulation (hamartin+tuberin).
134
Q

Describe Osteogenesis Imperfecta Type 1

A 
AD, Var Exp.
multiple bone fractures
blue sclera
LoF mutation in COL1A1.
reduces type 1 collagen by 50%.
135
Q

What are the 3 characteristics of Trinucleotide Repeat Disorders?

A

Slipped misparing (in germ cells)
anticipation
parental transmission bias

136
Q

Describe Huntington Disease

A

AD, Trinuc Rep Disorder (CAG)
early onset (paternal) or late onset (maternal).
progressive neural degeneration.
expansion of CAG repeat in HTT gene.

137
Q

X chromosome inactivation occurs during 1st week of _____ and is functionally _____

A

embryogenesis

mosaic

138
Q

Describe Fragile X Syndrome.

A 
XD, Trinuc Rep Disorder (CGG)
intellectual disability
dysmorphic features
aggression
maternal transmission bias.
expansion of CGG repeat in FMR1 gene.
139
Q

Describe Duchenne Muscular Dystrophy.

A 
XR
mutation in DMD gene (loss of Dystrophin).
progressive muscle weakness
calf hypertrophy
dilated cardiomyopathy
140
Q

Describe Hemphilia A

A 
XR, 10% carrier females affected.
bleeding
bruising
mutation in F8 gene.
deficiency of Factor VIII.
141
Q

mosaicism is analogous to mitochondrial _____

A

replicative segregation

142
Q

Describe 4 mitochondrial inheritance disorders.

A

Kearns-Sayre (eye issues, ataxia, deafness)
MELAS (stroke-like)
MERRF (ragged-red fibers)
LHON (vision failure)

143
Q

Describe the 4 characteristics of epigenetics

A
  1. different gene expression pattern (phenotype) from the same genome
  2. generational inheritance through cell division
  3. On/off state. no intermediate.
  4. eraseable/interconvertable
144
Q

Describe Waddington’s epigenetic hill thing

A

Stability of differentiated states of cells is maintained due to being at “lowest energy state” (bottom of valley)

145
Q

Give 3 examples of epigenetics

A

X-inactivation
imprinting
heterochromatin domains

146
Q

Give 3 examples of LoF disorders

A

Duchene (loss of dystrophin)
HNPP (loss of PMP22 gene)
Osteogenesis Imp I (reduced collagen I)

147
Q

Give 2 examples of GoF disorders

A

HbK (tighter O2 binding)

CMT1A (duplication of PMP22 gene)

148
Q

Give an example of novel property mutation disorder

A

Hubs’ (sickle shape, but normal function)

149
Q

What are the 8 steps at which mutations can affect protein function?

A 
Transcription (thalassemia)
Translation (thalassemia)
Protein folding (Hb disorders)
Post-Trans Mod (I-Cell)
holomer assembly (Ost Imp I)
localization (fam hypercholestrolemia)
cofactor binding (homocystinuria)
function (HbK)
150
Q

Trinucleotide Repeat Disorders can occur in _____

A

5’ UTR (Fragile X)
Intron
Exon (Huntington)
3’ UTR

M2M (2 decks)

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