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Step 1 Biochemistry-First Aid 2017 > Genetics > Flashcards

Genetics Flashcards

1
Q

Chromosome associated with Von Hippel-Lindau disease

A

Chromosome 3

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2
Q

Chromosome associated with fragile-X-syndrome

A

X chromosome

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3
Q

Chromosome associated with Cri-du-chat syndrome

A

Chromosome 5

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4
Q

Chromosome associated with renal cell carcinoma

A

Chromosome 3

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5
Q

Chromosome associated with hemochromatosis

A

Chromosome 6

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6
Q

Chromosome associated with Huntington disease

A

Chromosome 4

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7
Q

Chromosome associated with Down syndrome

A

Chromosome 21

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8
Q

Chromosome associated with Friedreich ataxia

A

Chromosome 9

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9
Q

Chromosome associated with cystic fibrosis

A

Chromosome 7

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10
Q

Chromosome associated with familial adenomatous polyposis

A

Chromosome 5

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11
Q

Chromosome associated with ADPKD (PKD2)

A

Chromosome 4

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12
Q

Chromosome associated with Wilms tumor

A

Chromosome 11

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13
Q

Chromosome associated with Williams syndrome

A

Chromosome 7

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14
Q

Chromosome associated with Patau syndrome

A

Chromosome 13

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15
Q

Chromosome associated with beta-globin gene defects

A

Chromosome 11

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16
Q

Chromosome associated with Prader-Willi syndrome

A

Chromosome 15

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17
Q

Chromosome associated with achondroplasia

A

Chromosome 4

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18
Q

Chromosome associated with Wilson disease

A

Chromosome 13

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19
Q

Chromosome associated with Marfan syndrome

A

Chromosome 15

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20
Q

Chromosome associated with ADPKD (PKD1)

A

Chromosome 16

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21
Q

Chromosome associated with retinoblastoma (RB1)

A

Chromosome 13

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22
Q

Chromosome associated with Klinefelter syndrome

A

X chromosome

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23
Q

Chromosome associated with Angelman syndrome

A

Chromosome 15

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24
Q

Chromosome associated with BRCA2

A

Chromosome 13

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25
Q

Chromosome associated with Down syndrome

A

Chromosome 21

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26
Q

Chromosome associated with Edward syndrome

A

Chromosome 18

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27
Q

Chromosome associated with alpha-globin gene defects

A

Chromosome 16

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28
Q

Chromosome associated with DiGeorge syndrome

A

Chromosome 22

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29
Q

Chromosome associated with X-linked agammaglobulinemia

A

X chromosome

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30
Q

Chromosome associated with BRCA1

A

Chromosome 17

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31
Q

Chromosome associated with NF2

A

Chromosome 22

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32
Q

Chromosome associated with NF1

A

Chromosome 17

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33
Q

Chromosome associated with p53

A

Chromosome 17

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34
Q

Chromosomal pairs commonly involved in Robertsonian translocations

A

Chromosomes 13, 14, 15, 21, 22

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35
Q

One of the most common types of translocations

A

Robertsonian translocation

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36
Q

Congenital microdeletion of short arm of chromosome 5

A

Cri-du-chat syndrome

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37
Q

Disease that presents with “elfin” facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliness to strangers and CV problems

A

Williams syndrome

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38
Q

Disease that presents with microcephaly, epicanthal folds, VSD, and high pitched crying with intellectual disability

A

Cri-du-chat syndrome

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39
Q

Mechanism of Robertsonian translocation

A

q-arms of 2 acrocentric chromosomes fuse at the centromere and the 2 p-arms are lost

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40
Q

Congenital microdeletion of p-arm of chromosome 7

A

Williams syndrome

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41
Q

Microdeletion at chromosome 22q11 presenting with thymic, parathyroid and cardiac defects

A

DiGeorge syndrome

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42
Q

DiGeorge syndrome is caused by failure of what to develop

A

Failure of 3rd and 4th branchial pouches to develop

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43
Q

Major cause of Down syndrome

A

Meiotic non-disjunction

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44
Q

Protein coded by chromosome 21 implicated in early-onset Alzheimer disease and associated with Down syndrome

A

Amyloid precursor protein

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45
Q

Malignancies at increased risk in Down syndrome

A

AML and ALL

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46
Q

Two chromosomes that typically cause Robertsonian translocations

A

Chromosomes 14 and 21

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47
Q

Most common cause of genetic intellectual disability

A

Down syndrome

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48
Q

Second most common autosomal trisomy resulting in live birth

A

Edwards syndrome

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49
Q

Most common viable chromosomal disorder

A

Down syndrome

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50
Q

Quad screening shows decreased AFP, beta-HCG, estriol and decreased or normal inhibin-A

A

Edwards syndrome

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51
Q

Presents with holoprosencephaly, polydactyly, cutis aplasia, rocker-bottom feet and microcephaly

A

Patau syndrome

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52
Q

Autosomal trisomy associated with Hirschsprung disease

A

Down syndrome

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53
Q

Quad screening shows decreased AFP and estriol and increased beta-HCG and inhibin-A

A

Down syndrome

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54
Q

Presents with decreased free beta-HCG and PAPP-A, polydactyly, rocker-bottom feet and cutis aplasia

A

Patau syndrome

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55
Q

Trinucleotide repeat associated with Fragile-X-syndrome

A

CGG

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56
Q

Trinucleotide repeat associated with Huntington disease

A

CAG

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57
Q

Presents with decreased beta-HCG and PAPP-A, micrognathia, rocker-bottom feet and clenched fists

A

Edwards syndrome

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58
Q

Second most cause of genetic intellectual disability

A

Fragile-X-syndrome

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59
Q

Trinucleotide repeat associated with Friedreich ataxia

A

GAA

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60
Q

Presents with increased beta-HCG, decreased PAPP-A, increased nuchal translucency and hypoplastic nasal bone

A

Down syndrome

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61
Q

Trinucleotide repeat associated with myotonic dystrophy

A

CTG

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62
Q

Indicates increased disease severity with decreased age of onset

A

Anticipation

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63
Q

Trinucleotide repeat expansion diseases

A

Friedreich ataxia, Huntington disease, myotonic dystrophy, Fragile-X-syndrome

64
Q

Presents with enlarged testes, long face and large jaw, large everted ears, autism and MVP

A

Fragile-X-syndrome

65
Q

X-linked disorder typically due to frameshift or nonsense mutation causing a truncated or absent dystrophin protein

A

Duchenne muscular dystrophy

66
Q

Cause of Pseudohypertrophy of calf muscles in Duchenne’s

A

Fibrofatty replacement of muscle

67
Q

Cause of Becker muscular dystrophy

A

Partially functional instead of truncated dystrophin gene

68
Q

Age of onset of Becker’s

A

Adolescence or early adulthood

69
Q

Presents with abnormal expression of myotonin protein kinase leading to myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding and arrhythmias

A

Myotonic type 1 muscular dystrophy

70
Q

Lyonization is seen in what type of disorders

A

X-linked recessive disorders

71
Q

Patient uses upper extremities to help stand up

A

Gower sign

72
Q

Age of onset of Duchenne’s

A

Before 5 years of age

73
Q

Calf Pseudohypertrophy, pushing on legs to stand up, thigh atrophy, and lordosis are common findings in what disorder

A

Duchenne muscular dystrophy

74
Q

Common cause of death in Duchenne’s

A

Dilated cardiomyopathy

75
Q

Helps anchor muscle fibers, primarily in skeletal and cardiac muscle

A

Dystrophin

76
Q

Largest protein-coding human gene

A

Dystrophin gene (DMD)

77
Q

Autosomal dominant disorder with CTG trinucleotide repeat in DMPK gene

A

Myotonic type 1 muscular dystrophy

78
Q

How does weakness begin in Duchenne’s

A

In pelvic girdle muscles and progresses superiorly

79
Q

Defective gene in cystic fibrosis

A

CFTR gene on chromosome 7

80
Q

Most common lethal genetic disease in Caucasian population

A

Cystic fibrosis

81
Q

Diagnosis of cystic fibrosis

A

Increased Cl concentration > 60 mEq/L in sweat

82
Q

Organism responsible for recurrent pulmonary infections in early infancy

A

Staph aureus

83
Q

Organism responsible for recurrent pulmonary infections in adolescence

A

Pseudomonas aeruginosa

84
Q

Complication of cystic fibrosis in newborns

A

Meconium ileus

85
Q

Vitamins commonly deficient in cystic fibrosis

A

Fat soluble vitamins (A, D, E, K)

86
Q

Patient with recurrent pulmonary infections on hypertonic saline to clear mucus secretions is at risk for what GI disorders

A

Pancreatic insufficiency, biliary cirrhosis, and liver disease

87
Q

Cause of decreased fat soluble vitamins in cystic fibrosis

A

Malabsorption with steatorrhea

88
Q

Common x-ray findings in cystic fibrosis

A

Reticulonodular pattern with opacification of sinuses

89
Q

Complication of cystic fibrosis in men

A

Infertility in men (absence of vas deferens)

90
Q

Complication of cystic fibrosis in women

A

Subinfertility, amenorrhea, abnormally thick cervical mucus

91
Q

Treatment for cystic fibrosis that slows disease progression

92
Q

Anti-inflammatory agent used in cystic fibrosis

A

Azithromycin

93
Q

Treatments used to breakdown and increase mucus clearance in cystic fibrosis

A

Chest physiotherapy, albuterol, DNAse, hypertonic saline

94
Q

Treatment to increase protein digestion in cystic fibrosis

A

Pancreatic enzymes

95
Q

Consequence of misfolded protein by defective CFTR gene in cystic fibrosis

A

Misfolded protein retained in RER and not transported to cell membrane

96
Q

Function of CFTR gene

A

Encodes ATP-gated Cl- channel

97
Q

Function of ATP-gated Cl- channel

A

Secretes chloride in lungs and GI tract and reabsorbs chloride in sweat glands

98
Q

Consequence of decreased chloride secretion in cystic fibrosis

A

Increased reabsorption of sodium and water leading to thick mucus in lungs and GI tract

99
Q

Electrolyte abnormalities in cystic fibrosis

A

Contraction alkalosis and hypokalemia

100
Q

Cause of contraction alkalosis and hypokalemia in cystic fibrosis

A

ECF H2O/sodium losses and renal potassium/H+ wasting

101
Q

Newborn screening finding in cystic fibrosis

A

Increased immunoreactive trypsinogen

102
Q

Presentation of MELAS syndrome

A

Mitochondrial Encephalopathies, Lactic Acidosis, Stroke-like episodes

103
Q

Presents with failure of oxidative phosphorylation, ragged red fibers on muscle biopsy and lactic acidosis

A

Mitochondrial myopathies

104
Q

Inheritance pattern that is transmitted only through mother with all offspring showing signs of disease

A

Mitochondrial inheritance

105
Q

Inheritance pattern that has an increased risk in consanguineous families

A

Autosomal recessive

106
Q

Inheritance pattern in which sons of heterozygous mothers have a 50% change of being affected

A

X-linked recessive

107
Q

Inherited disorder resulting in increased phosphate wasting at proximal tubule

A

Hypophosphatemic rickets

108
Q

Inheritance pattern of hypophosphatemic rickets

A

X-linked dominant

109
Q

Inheritance pattern of mitochondrial myopathies

A

Mitochondrial inheritance

110
Q

Inheritance pattern that is more severe in females, no male-to-male inheritance and skips generations

A

X-linked recessive

111
Q

Inheritance pattern transmitted through both parents, with fathers transmitting to all daughters but no sons

A

X-linked dominant

112
Q

Inheritance pattern often due to enzyme deficiencies and usually seen in only one generation

A

Autosomal recessive

113
Q

Inheritance pattern in which mothers transmit to 50% of daughters and sons

A

X-linked dominant

114
Q

Inheritance pattern that is often pleiotropic and variably expressive

A

Autosomal dominant

115
Q

Fragile X-syndrome and Alport syndrome have what type of inheritance pattern

A

X-linked dominant

116
Q

What is crucial for diagnosis of Autosomal dominant disorders

A

Family history

117
Q

On average, how many children are affected with one affected parent in autosomal dominant disorders

A

50% of children

118
Q

Inheritance pattern in which females must be homozygous to be affected

A

X-linked recessive

119
Q

Inheritance pattern that has variable expressivity in a population or even in families due to heteroplasmy

A

Mitochondrial inheritance

120
Q

Inheritance pattern often due to defects in structural genes, no skipping of generations, and both male and female equally affected

A

Autosomal dominant

121
Q

Cause of Prader-Willi syndrome in which to maternally imprinted genes are received with no parental gene.

A

Maternal uniparental disomy

122
Q

Most common cause of Prader-Willi syndrome

A

Maternal imprinting with deleted or mutated paternal gene

123
Q

Most common cause of Angelman syndrome

A

Paternal imprinting with deleted or mutated maternal gene

124
Q

Imprinting defect that results in hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia

A

Prader-Willi syndrome

125
Q

Cause of Angelman syndrome in which two paternally imprinted genes are received with no maternal gene

A

Paternal uniparental disomy

126
Q

Presents with inappropriate laughter, seizures, ataxia, and severe intellectual disability

A

Angelman syndrome

127
Q

Mechanism of imprinting

A

Inactivation by methylation

128
Q

Hardy-Weinberg law assumptions

A
  1. No mutation occurring at the locus
  2. Natural selection is not occurring
  3. Completely random mating
  4. No net migration
129
Q

Equation for Hardy-Weinberg

A

p^2 + 2pq = q^2 = 1

130
Q

Frequency for heterozygosity

131
Q

Frequency of X-linked recessive disease in males equals?

132
Q

Frequency for homozygosity for allele A

133
Q

Presence of genetically distinct cell lines in the same individual

134
Q

Mutation that arises after fertilization and propagates to multiple tissues or organs

A

Somatic mosaicism

135
Q

Mutation in only in one egg or sperm resulting in disease but neither parent or relatives have disease

A

Gonadal mosaicism

136
Q

Mutations at different loci producing similar phenotype

A

Locus heterogeneity

137
Q

Different mutations in same loci producing the same phenotype

A

Allelic heterogeneity

138
Q

Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrally inherited diseases

A

Heteroplasmy

139
Q

Mechanism causing recessive disorder in offspring when only one parent is carrier

A

Uniparental disomy

140
Q

Is uniparental disomy euploid or aneuploid

141
Q

Both alleles contribute to the phenotype of the heterozygote as in ABO blood typing

A

Codominance

142
Q

Patient with same genotype have varying phenotypes as in NF1

A

Variable expressivity

143
Q

Individuals with mutant genotype may or may not express mutant phenotype as in BRCA1 mutation

A

Incomplete penetrance

144
Q

Mutation on one gene causes multiple phenotypic effects as in PKU

A

Pleiotropy

145
Q

Increased severity or earlier onset of disease in succeeding generations as in Huntington disease

A

Anticipation

146
Q

Patient inherits one bad copy and one good copy of gene and then through mutation loses good copy of gene as in tumor suppressor gene Rb or Lynch syndrome

A

Loss of heterozygosity

147
Q

Mutation that overpowers normal product as in Marfan syndrome

A

Dominant-negative mutation

148
Q

Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance

A

Linkage disequilibrium

149
Q

Function of kinases

A

Move phosphate from ATP sources

150
Q

Function of phosphorylases

A

Move phosphate from non-ATP sources

151
Q

Function of phosphatases

A

Remove phosphate groups

152
Q

Function of hydroxylases

A

Move hydroxyl groups

153
Q

Function of carboxylases

A

Move carboxyl groups

154
Q

Enzyme group that requires biotin

A

Carboxylases

155
Q

Function of dehydrogenases

A

Move electrons

156
Q

Enzyme group involved in redox reactions

A

Dehydrogenases

Step 1 Biochemistry-First Aid 2017 (5 decks)

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