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MF2 Epidemiology, Biostats, Genetics > Genetics 1 > Flashcards

Genetics 1 Flashcards

1
Q

degree (%) to which a trait is expressed among those with gene

A

Penetrance

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2
Q

gene whose effects are not always seen despite gene presence

A

Incomplete penetrance

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3
Q

variability (or not) or phenotype for those with gene

A

Expressivity

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4
Q

Describes a single gene with many traits associated with it

A

Pleiotropism

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5
Q

Describes when many genes lead to a single trait

A

Genetic heterogeneity

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6
Q

Structure of hemoglobin

A

2 alpha and 2 beta globin chains

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7
Q

Chromosome with 2 hemoglobin alpha genes

A

16

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8
Q

Chromosome with 1 hemoglobin beta gene

A

11

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9
Q

1:1 ratio of these in hemoglobin structure allow for solubility

A

1:1 ratio of alpha and beta chains

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10
Q

Mutation in sickle cell anemia occurs in this gene

A

Chromosome 11 beta-globin gene

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11
Q

Amino acid substitution in sickle cell anemia

A

Val –> glu

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12
Q

Type of point mutation that occurs in Sickle cell anemia

A

Missense (amino acid switch)

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13
Q

Does the mutation in the beta globin gene in Sickle Cell Anemia show pleiotropism or genetic heterogeneity?

A

Pleiotropism

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14
Q

Type of point mutation that occurs in thalassemia

A

Nonsense

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15
Q

In thalassemia, there is a lack in production of this

A

Beta-globin

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16
Q

2 mutations that can cause Beta-thalassemia

A

Nonsense point mutation
Abnormal splicing due to mutation in non-coding regions

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17
Q

Some breast cancers have extra gene copies of this

A

Her2 gene (product is a growth factor receptor)

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18
Q

The kind of mutation results in extra gene copies of Her2 in breast cancer

A

Amplification mutation

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19
Q

Entire regions of these two chromosomes are transposed in chronic myeloid leukemia

A

9 and 22

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20
Q

In chronic myeloid leukemia, this promoter because adjacent to ABL (tyrosine kinase) and acts as a perpetual on switch

A

BCR

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21
Q

In chronic myeloid leukemia, BCR promoter becomes adjacent to this
Results in unregulated cell proliferation

A

ABL (a tyrosine kinase)

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22
Q

Type of mutation that occurs in chronic myeloid leukemia

A

Translocation
(Entire regions of chromosome 9 and 22 are transposed)

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23
Q

Phenomenon involving earlier onset and increasing severity of disease with each generation
Often occurs in diseases involving trinucleotide repeats

A

Genetic anticipation

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24
Q

Disease caused by an expansion of CTG repeats at the 3’ untranslated region of DMPK gene, a protein kinase
Results in muscle generation with slowed relaxation phase

A

Myotonic dystrophy

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25
Q

Myotonic dystrophy is broadly caused by this

A

Expansion of trinucleotide repeats

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26
Q

In myotonic dystrophy, there is an expansion of CTG repeats in this gene

A

DMPK (protein kinase)

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27
Q

Gain of function changes are usually from this type of inheritance

A

Autosomal dominant

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28
Q

Presence of an autosomal dominant disorder in a patient with no family history may be due to this

A

Spontaneous mutation

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29
Q

Gene that encodes polycystin

A

PKD-1

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30
Q

PKD-1 gene encodes this protein

A

Polycystin

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31
Q

Cilia-related protein that is responsible for sensing pressure and fluid flow, especially in the kidney

A

Polycystin

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32
Q

Autosomal dominant polycystin disease involves a loss of function of polycystin due to mutation in this gene

A

PKD-1

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33
Q

Adenomatous polyposis is caused by a mutation in the adenomatous polyposis coli (APC) gene, and exhibits this inheritance pattern

A

Autosomal dominant
(although both gene copies must be lost)

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34
Q

Adenomatous polyposis coli (APC) is involved in cellular signaling and this pathway

A

WNT pathway (promotes cell proliferation –> cancer)

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35
Q

The WNT pathway promotes this

A

Cell proliferation (leads to cancer, often colon cancer)

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36
Q

a1-Antitrypsin (A1AT) deficiency exhibits this type of inheritance

A

Autosomal recessive

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37
Q

A1AT protein turns off this activity
Results in inappropriate digestion of patient’s tissue proteins

A

WBC protease

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38
Q

Wild type A1AT gene

A

PiM

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39
Q

Non-functional A1AT gene

A

PiZ

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40
Q

Loss of the wild type gene (PiM) of A1AT results in this

A

Improper protein folding and loss of activity

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41
Q

Glucose-6-phosphate dehydrogenase deficiency exhibits this inheritance

A

X-linked recessive

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42
Q

X-linked recessive condition that results in inability to inactive ROS, shortening RBCs lifespan

A

Glucose-6-phosphate dehydrogenase deficiency

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43
Q

Enzyme defects tend to exhibit this inheritance

A

Recessive

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44
Q

Term for the presence of two or more cell lineages with different genotypes arising from a single zygote in a single individual

A

Genetic mosaicism

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45
Q

Cellular organelle involved in breakdown/recycling of macromolecules

A

lysosomes

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46
Q

Type of lysosomal storage disease resulting from inability to degrade glycosaminoglycans

A

Mucopolysaccaridoses

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47
Q

Heparan sulfate, chondroitan sulfate, and keratan sulfate are this type of compound

A

Glycosaminoglycans (GAGs)

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48
Q

This compound gets degraded into GAGs and proteins

A

Proteoglycans

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49
Q

All mucopolysaccharidoses result in these 2 main symptoms

A

Coarse facial features and Skeletal dysplasia

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50
Q

X-linked recessive deficiency of iduronate-2-sulfatase

A

Hunter syndrome

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51
Q

Mucopolysaccharidoses involving no corneal clouding and Death >10 years, some into adulthood

A

Hunter syndrome

52
Q

autosomal recessive deficiency of alpha-1-iduronidase

A

Hurler syndrome

53
Q

Hunter syndrome is due to a deficiency in this enzyme

A

Iduronate-2-sulfatase

54
Q

Hurler syndrome is due to a deficiency in this enzyme

A

Alpha-1-iduronidase

55
Q

Mucopolysaccharidosis involving Normal appearance at birth, Hepatosplenomegaly begins at 6-12 months, Corneal clouding, Heart valve insufficiency, Macroglossia, Skeletal dysplasia and coarseness
Death 6-10 years

A

Hurler syndrome

56
Q

Which mucopolysaccharidosis involves corneal clouding and earlier death?
(More severe form)

A

Hurler syndrome

57
Q

Autosomal recessive sphingolipidosis caused by a Glucocerebrosidase deficiency

A

Gaucher disease

58
Q

Gaucher disease is due to a deficiency in this enzyme that is involved in degradation of cell membranes of RBCs and WBCs

A

Glucocerebrosidase

59
Q

In Gaucher disease, this compound accumulates in macrophages and bone marrow

A

Glucocerebrosides

60
Q

Levels of RBC, WBC, and platelets in Gaucher disease

A

All low (cytopenia)

61
Q

Wrinkled tissue paper look from distended lysosomes is seen in this disease

A

Gaucher disease

62
Q

Wrinkled tissue paper appearance to macrophages in Gaucher disease is caused by an accumulation of this in lysosomes

A

Glucocerebrosides

63
Q

Sphingolipidosis that involves adult onset and 20x risk of Parkinson’s disease
Splenomegaly, cytopenias, bone fracture risk

A

Gaucher disease

64
Q

Autosomal recessive sphingolipidosis caused by a beta-hexosaminidase A deficiency

A

Tay-Sachs disease

65
Q

Tay-Sachs disease results in an accumulation of this in all cells of the body

A

GM2 gangliosides

66
Q

Most important symptom in Tay-Sachs disease

A

Neuronal accumulation of Gm2 gangliosides –> neurodegeneration

67
Q

Sphingolipidosis where patients are normal appearance and physical exam at birth except for markedly increased startle reflex

A

Tay-Sachs disease

68
Q

Tay-Sachs disease is most common in this ethnic population

A

East European Jewish

69
Q

East European Jewish population have a high rate of these 2 diseases

A

Tay-Sachs disease and Niemann-Pick disease

70
Q

In Tay-Sachs disease, GM2 gangliosides accumulate in the brain and result in these 2 main symptoms

A

Macrocephaly
Cherry-red macula

71
Q

Which of the following sphingolipidoses involves a cherry-red macula?
Gaucher, Tay-Sachs, Niemann-Pick

A

Tay-Sachs and Niemann-Pick Type A

72
Q

Which of the following sphingolipidoses involves adult onset?
Gaucher, Tay-Sachs, Niemann-Pick

A

Gaucher disease

73
Q

Sphingolipidosis that is an autosomal recessive deficiency of sphingomyelinase

A

Niemann-Pick disease

74
Q

In Niemann-Pick disease, sphingomyelin accumulate in lysosomes of these 2 organs

A

Brain and liver

75
Q

In Niemann-Pick disease, this accumulates in lysosomes of brain and liver

A

sphingomyelin

76
Q

Whorled myelin bodies are characteristic of this sphingolipidosis

A

Tay-Sachs disease

77
Q

Type of Niemann-Pick disease that involves severe mental deterioration; death by 3 years
CNS deterioration, hepatosplenomegaly, lymphadenopathy

78
Q

Type of Niemann-Pick disease that involves Hepatosplenomegaly and minimal CNS involvement
Milder; survive to adulthood

79
Q

Type of Niemann-Pick disease that involves alveolar thickening (leading to dyspnea (short of breath) and low pO2)

80
Q

Lifespan of Hurler disease

A

6-10 years

81
Q

Lifespan of Hunters disease

A

> 10 years, some into adulthood

82
Q

Lifespan of Gaucher disease

A

Near normal lifespan

83
Q

Lifespan of Tay Sachs disease

84
Q

Lifespan of Niemann-Pick Type A disease

85
Q

Lifespan of Niemann-Pick Type B disease

86
Q

Macrophage foam cell filled with sphingomyelin is seen in this disease

A

Niemann-Pick disease

87
Q

Autosomal recessive deficiency of muscle phosphorylase
Involves exercise intolerance, fatigue, inability to mobilize glucose (no elevation of lactate with exercise), muscle cramps/pain with exercise (elevated CK due to muscle damage)
Muscle cell damage –> myoglobin release –> myoglobinuria

A

McArdle disease

88
Q

Enzyme deficient in McArdle disease

A

Muscle phosphorylase

89
Q

Autosomal recessive deficiency of hepatic glucose-6-phosphatase
Inability to mobilize glucose from liver to blood (hypoglycemia), Hepatomegaly

A

Von Gierke disease

90
Q

Enzyme deficient in Von Gierke disease

A

Hepatic glucose-6-phosphatase

91
Q

Autosomal recessive deficiency of alpha-glucosidase, a lysosomal enzyme (multisystem disorder)
Inability to cleave glycogen (glucose deficiency in heart)
Muscle weakness, cardiomyopathy (death in early childhood), vacuolar myopathy

A

Pompe disease

92
Q

Enzyme deficient in Pompe disease

A

Alpha-glucosidase (lysosomal glycogen cleavage enzyme)

93
Q

Condition caused by a point mutation resulting in replacement of a glycine residue with another amino acid in collagen molecule
Results in weak collagen, which is a major structural protein in all solid connective tissues
Frequent bone fractures, even in utero
Hearing loss due to defective ossicles
Translucent ocular sclera
Poor dentition

A

Osteogenesis imperfecta

94
Q

First amino acid in the collagen side chain that when mutated prevents the formation of stable, compact collagen fibers

95
Q

Abnormal allele prevents function of normal allele

A

Negative dominance

96
Q

Autosomal dominant disorder caused by a defect in fibrillin protein
Involves dolichostenomelia (overgrowth of long bones), Pectus excavatum/carinatum, scoliosis, long face, prominent supraorbital ridges
Cardiovascular (mitral valve prolapse, aortic regurgitation, aortic aneurysm)

A

Marfans syndrome

97
Q

Protein that is a scaffold for elastic fibers in ECM
Defective in Marfans syndrome

98
Q

Inheritance pattern of Marfans syndrome

A

Autosomal dominant

99
Q

Abnormal fibrillin in Marfans syndrome results in decreased sequestration and increased levels of this which is involved in inflammation

100
Q

Symptom seen in Marfans syndrome where weak ciliary zonules lead to dislocation of lens

A

Ectopia lentis

101
Q

Defective fibrillin protein in Marfans syndrome leads to defect in this type of tissue, causing cardiovascular problems

A

Connective tissue

102
Q

Genetic disorder resulting in defective collagen
AR, AD, X-linked forms
Produced by many genes (genetic heterogeneity)
Very variable but common thread is fragile collagen
Susceptible to trauma, poor wound healing, susceptible to organ rupture, corneal rupture, hypermobile joints (dislocations), hyperextensible skin

A

Ehlers-Danlos syndrome

103
Q

Autosomal dominant disorder with loss/reduced function of LDL cholesterol receptor
Homozygosity has additive effect (codominance)
Early cardiovascular diseases
Tendon xanthomas

A

Familial hypercholesterolemia

104
Q

Inheritance pattern of Familial hypercholesterolemia

A

Autosomal dominant

105
Q

Describes when homozygosity has an additive effect

A

Codominance

106
Q

Buildup of fats, cholesterol and other substances in and on the artery walls
Higher risk in Familial hypercholesterolemia

A

Atherosclerosis

107
Q

Process where abnormal allele prevents function of normal allele

A

Negative dominance

108
Q

Disorder of defective collagen that can be caused by many genes (genetic heterogeneity)

A

Ehlers-Danlos

109
Q

Term that describes an overgrowth of long bones; seen in Marfans syndrome

A

Dolichostenomelia

110
Q

Fragile X syndrome is caused by this

A

FMR gene on Xq27.3 has increased numbers of CGG trinucleotides

111
Q

CGG trinucleotides on the FMR gene on Xq27.3 elongate in this

A

Maternal oocyte

112
Q

Cytogenetic hallmark of Fragile X syndrome is a fragile site here

113
Q

Condition caused by FMR gene on Xq27.3 has increased numbers of CGG trinucleotides
X-linked disorder but does not show classic X-linked inheritance: normal carrier males –> carrier females –> grandsons exhibit full phenotype
Disorder expressed in males
Dysmorphic ears
Long face with prominent jaw
Macroorchidism after puberty
Mental retardation (most common cause in males)

A

Fragile X syndrome

114
Q

In Huntington disease, the trinucleotide repeat expansion occurs during this

A

Spermatogenesis

115
Q

Inheritance pattern of Huntington disease

A

Autosomal dominant

116
Q

When does genetic imprinting occur

A

Occurs in either sperm or egg before fertilization

117
Q

Condition where the maternal gene on region 15q12 is silenced by imprinting and the paternal gene is lost by deletion

A

Prader-Willi syndrome

118
Q

Is the maternal or paternal gene deleted in Prader-Willi syndrome?

119
Q

Condition where the paternal gene on region 15q12 is silenced by imprinting and the maternal gene is lost by deletion

A

Angelman syndrome

120
Q

Is the maternal or paternal gene deleted in Angelman syndrome?

121
Q

Does this describe Prader-Willi or Angelman syndrome:
Intellectual disability, short stature, hyperphagia, obesity, small hands/feet, hypogonadism

A

Prader-Willi syndrome

122
Q

Does this describe Prader-Willi or Angelman syndrome:
Intellectual disability, microcephaly, ataxia, seizures, inappropriate laughter

A

Angelman syndrome

123
Q

Phenomenon in which both members of a chromosome pair are inherited from one parent, and the other parent’s chromosome for that pair is missing

A

Uniparental disomy

124
Q

Describes how mutations mtDNA will exist in varying proportions in each mitochondrion and therefore in each cell

A

Heteroplasmy

125
Q

Condition involving progressive bilateral loss of central vision
+/- also cardiac conduction and other neurologic signs

A

Leber hereditary oculomotor neuropathy

MF2 Epidemiology, Biostats, Genetics (7 decks)

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