Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

My M2M > Unit II B > Flashcards

Unit II B Flashcards

1
Q

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

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

at least one

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

carriers diseased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Recessive diseases tend to _____ generations

A

skip

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Autosomal dominant diseases tend to _____ generations

A

be present in all

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

In X-linked dominant inheritance, _____ can be affected

A

females and males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

All daughters any sons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

expressivity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

Pleiotropy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

X-linked dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

In _____ inheritance, females are usually carriers

A

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

The rate of SNPs between two people is _____

A

1/1000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

human genome sequencing focused on _____ regions of genome

A

euchromatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

_____ percent of the genome is translated

A

1.5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

_____ percent of genome has genes (introns/exons)

A

20-25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

_____ percent of genome has single copy sequences

A

50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

_____ percent of genome has repeat sequences

A

40-50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Tandem repeats are found in _____, _____, and _____

A

genome heterochromatic regions centromeric regions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

The 2 classes of repetitive DNA are _____

A

tandem repeats dispersed repetitive elements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

A

gene families

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

gene families arise from _____ and facilitate genomic innovation

A

gene duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

CNVs increase genomic diversity but lead to many diseases because _____

A

they are unstable parts of genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

the major limitation of current sequencing/genotyping is ____

A

highly duplicated/repeated regions of genome are unexamined

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

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

A

missing heritability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

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

A

mosaicism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

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

A

small size rocker-bottom feet clenched fingers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

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

A

distinct facial features intellectual impairment congenital malformations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What are the 5 possible mechanisms of structural chromosomal rearrangements?

A

Insertion Deletion Inversion Reciprocal Translocation Duplication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

There is no loss of genetic material in _____ chromosomal rearrangements

A

balanced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

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

A

alternate (normal+abnormal) adjacent (abnormal)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

The overall risk of balanced parents having unbalanced progeny is _____

A

0-30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

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

A

epigenetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

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

A

methylation epigenetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

DNA methylation marks are reset in _____ and reestablished during _____

A

primordial germ cells gametogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

This enzyme mediates propagation of epigenetic marks in somatic cells

A

Maintenance methyltransferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

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

A

paternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Give 2 examples of disorders associated with genetic imprinting

A

Prader-Willi Angelman

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

PWS and AS are due to deletions in chromosome _____

A

15q11-13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

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

A

paternal chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

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

A

maternal chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

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

A

imprinting center

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

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

A

uniparental disomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

maternal uniparental disomy can cause _____

A

PWS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

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

A

hyperdiploidy hypodiploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

FISH uses fluorescently tagged _____ to target _____ or _____

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

_____ (FISH probe) is used for _____ in _____

A

centromere (cen) enumeration ALL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

_____ (FISH probe) is used for _____ in _____

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

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

A

PML:RARa represses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

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

A

retinoic acid coactivators

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

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

A

BCR:ABL cell proliferation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

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

A

Gleevec ATP-binding site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Describe how CMA works

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

CMA cannot detect _____

A

balanced rearrangements mosaicism (

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What are 3 examples of balanced rearrangements?

A

Inversions Reciprocal translocations Robertsonian translocations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

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

A

Pericentric Paracentric

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

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

A

Reciprocal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

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

A

Robertsonian

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

My M2M (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions