Genetics Flashcards
1
Q
Chromosome associated with Von Hippel-Lindau disease
A
Chromosome 3
2
Q
Chromosome associated with fragile-X-syndrome
A
X chromosome
3
Q
Chromosome associated with Cri-du-chat syndrome
A
Chromosome 5
4
Q
Chromosome associated with renal cell carcinoma
A
Chromosome 3
5
Q
Chromosome associated with hemochromatosis
A
Chromosome 6
6
Q
Chromosome associated with Huntington disease
A
Chromosome 4
7
Q
Chromosome associated with Down syndrome
A
Chromosome 21
8
Q
Chromosome associated with Friedreich ataxia
A
Chromosome 9
9
Q
Chromosome associated with cystic fibrosis
A
Chromosome 7
10
Q
Chromosome associated with familial adenomatous polyposis
A
Chromosome 5
11
Q
Chromosome associated with ADPKD (PKD2)
A
Chromosome 4
12
Q
Chromosome associated with Wilms tumor
A
Chromosome 11
13
Q
Chromosome associated with Williams syndrome
A
Chromosome 7
14
Q
Chromosome associated with Patau syndrome
A
Chromosome 13
15
Q
Chromosome associated with beta-globin gene defects
A
Chromosome 11
16
Q
Chromosome associated with Prader-Willi syndrome
A
Chromosome 15
17
Q
Chromosome associated with achondroplasia
A
Chromosome 4
18
Q
Chromosome associated with Wilson disease
A
Chromosome 13
19
Q
Chromosome associated with Marfan syndrome
A
Chromosome 15
20
Q
Chromosome associated with ADPKD (PKD1)
A
Chromosome 16
21
Q
Chromosome associated with retinoblastoma (RB1)
A
Chromosome 13
22
Q
Chromosome associated with Klinefelter syndrome
A
X chromosome
23
Q
Chromosome associated with Angelman syndrome
A
Chromosome 15
24
Q
Chromosome associated with BRCA2
A
Chromosome 13
25
Chromosome associated with Down syndrome
Chromosome 21
26
Chromosome associated with Edward syndrome
Chromosome 18
27
Chromosome associated with alpha-globin gene defects
Chromosome 16
28
Chromosome associated with DiGeorge syndrome
Chromosome 22
29
Chromosome associated with X-linked agammaglobulinemia
X chromosome
30
Chromosome associated with BRCA1
Chromosome 17
31
Chromosome associated with NF2
Chromosome 22
32
Chromosome associated with NF1
Chromosome 17
33
Chromosome associated with p53
Chromosome 17
34
Chromosomal pairs commonly involved in Robertsonian translocations
Chromosomes 13, 14, 15, 21, 22
35
One of the most common types of translocations
Robertsonian translocation
36
Congenital microdeletion of short arm of chromosome 5
Cri-du-chat syndrome
37
Disease that presents with "elfin" facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliness to strangers and CV problems
Williams syndrome
38
Disease that presents with microcephaly, epicanthal folds, VSD, and high pitched crying with intellectual disability
Cri-du-chat syndrome
39
Mechanism of Robertsonian translocation
q-arms of 2 acrocentric chromosomes fuse at the centromere and the 2 p-arms are lost
40
Congenital microdeletion of p-arm of chromosome 7
Williams syndrome
41
Microdeletion at chromosome 22q11 presenting with thymic, parathyroid and cardiac defects
DiGeorge syndrome
42
DiGeorge syndrome is caused by failure of what to develop
Failure of 3rd and 4th branchial pouches to develop
43
Major cause of Down syndrome
Meiotic non-disjunction
44
Protein coded by chromosome 21 implicated in early-onset Alzheimer disease and associated with Down syndrome
Amyloid precursor protein
45
Malignancies at increased risk in Down syndrome
AML and ALL
46
Two chromosomes that typically cause Robertsonian translocations
Chromosomes 14 and 21
47
Most common cause of genetic intellectual disability
Down syndrome
48
Second most common autosomal trisomy resulting in live birth
Edwards syndrome
49
Most common viable chromosomal disorder
Down syndrome
50
Quad screening shows decreased AFP, beta-HCG, estriol and decreased or normal inhibin-A
Edwards syndrome
51
Presents with holoprosencephaly, polydactyly, cutis aplasia, rocker-bottom feet and microcephaly
Patau syndrome
52
Autosomal trisomy associated with Hirschsprung disease
Down syndrome
53
Quad screening shows decreased AFP and estriol and increased beta-HCG and inhibin-A
Down syndrome
54
Presents with decreased free beta-HCG and PAPP-A, polydactyly, rocker-bottom feet and cutis aplasia
Patau syndrome
55
Trinucleotide repeat associated with Fragile-X-syndrome
CGG
56
Trinucleotide repeat associated with Huntington disease
CAG
57
Presents with decreased beta-HCG and PAPP-A, micrognathia, rocker-bottom feet and clenched fists
Edwards syndrome
58
Second most cause of genetic intellectual disability
Fragile-X-syndrome
59
Trinucleotide repeat associated with Friedreich ataxia
GAA
60
Presents with increased beta-HCG, decreased PAPP-A, increased nuchal translucency and hypoplastic nasal bone
Down syndrome
61
Trinucleotide repeat associated with myotonic dystrophy
CTG
62
Indicates increased disease severity with decreased age of onset
Anticipation
63
Trinucleotide repeat expansion diseases
Friedreich ataxia, Huntington disease, myotonic dystrophy, Fragile-X-syndrome
64
Presents with enlarged testes, long face and large jaw, large everted ears, autism and MVP
Fragile-X-syndrome
65
X-linked disorder typically due to frameshift or nonsense mutation causing a truncated or absent dystrophin protein
Duchenne muscular dystrophy
66
Cause of Pseudohypertrophy of calf muscles in Duchenne's
Fibrofatty replacement of muscle
67
Cause of Becker muscular dystrophy
Partially functional instead of truncated dystrophin gene
68
Age of onset of Becker's
Adolescence or early adulthood
69
Presents with abnormal expression of myotonin protein kinase leading to myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding and arrhythmias
Myotonic type 1 muscular dystrophy
70
Lyonization is seen in what type of disorders
X-linked recessive disorders
71
Patient uses upper extremities to help stand up
Gower sign
72
Age of onset of Duchenne's
Before 5 years of age
73
Calf Pseudohypertrophy, pushing on legs to stand up, thigh atrophy, and lordosis are common findings in what disorder
Duchenne muscular dystrophy
74
Common cause of death in Duchenne's
Dilated cardiomyopathy
75
Helps anchor muscle fibers, primarily in skeletal and cardiac muscle
Dystrophin
76
Largest protein-coding human gene
Dystrophin gene (DMD)
77
Autosomal dominant disorder with CTG trinucleotide repeat in DMPK gene
Myotonic type 1 muscular dystrophy
78
How does weakness begin in Duchenne's
In pelvic girdle muscles and progresses superiorly
79
Defective gene in cystic fibrosis
CFTR gene on chromosome 7
80
Most common lethal genetic disease in Caucasian population
Cystic fibrosis
81
Diagnosis of cystic fibrosis
Increased Cl concentration > 60 mEq/L in sweat
82
Organism responsible for recurrent pulmonary infections in early infancy
Staph aureus
83
Organism responsible for recurrent pulmonary infections in adolescence
Pseudomonas aeruginosa
84
Complication of cystic fibrosis in newborns
Meconium ileus
85
Vitamins commonly deficient in cystic fibrosis
Fat soluble vitamins (A, D, E, K)
86
Patient with recurrent pulmonary infections on hypertonic saline to clear mucus secretions is at risk for what GI disorders
Pancreatic insufficiency, biliary cirrhosis, and liver disease
87
Cause of decreased fat soluble vitamins in cystic fibrosis
Malabsorption with steatorrhea
88
Common x-ray findings in cystic fibrosis
Reticulonodular pattern with opacification of sinuses
89
Complication of cystic fibrosis in men
Infertility in men (absence of vas deferens)
90
Complication of cystic fibrosis in women
Subinfertility, amenorrhea, abnormally thick cervical mucus
91
Treatment for cystic fibrosis that slows disease progression
Ibuprofen
92
Anti-inflammatory agent used in cystic fibrosis
Azithromycin
93
Treatments used to breakdown and increase mucus clearance in cystic fibrosis
Chest physiotherapy, albuterol, DNAse, hypertonic saline
94
Treatment to increase protein digestion in cystic fibrosis
Pancreatic enzymes
95
Consequence of misfolded protein by defective CFTR gene in cystic fibrosis
Misfolded protein retained in RER and not transported to cell membrane
96
Function of CFTR gene
Encodes ATP-gated Cl- channel
97
Function of ATP-gated Cl- channel
Secretes chloride in lungs and GI tract and reabsorbs chloride in sweat glands
98
Consequence of decreased chloride secretion in cystic fibrosis
Increased reabsorption of sodium and water leading to thick mucus in lungs and GI tract
99
Electrolyte abnormalities in cystic fibrosis
Contraction alkalosis and hypokalemia
100
Cause of contraction alkalosis and hypokalemia in cystic fibrosis
ECF H2O/sodium losses and renal potassium/H+ wasting
101
Newborn screening finding in cystic fibrosis
Increased immunoreactive trypsinogen
102
Presentation of MELAS syndrome
Mitochondrial Encephalopathies, Lactic Acidosis, Stroke-like episodes
103
Presents with failure of oxidative phosphorylation, ragged red fibers on muscle biopsy and lactic acidosis
Mitochondrial myopathies
104
Inheritance pattern that is transmitted only through mother with all offspring showing signs of disease
Mitochondrial inheritance
105
Inheritance pattern that has an increased risk in consanguineous families
Autosomal recessive
106
Inheritance pattern in which sons of heterozygous mothers have a 50% change of being affected
X-linked recessive
107
Inherited disorder resulting in increased phosphate wasting at proximal tubule
Hypophosphatemic rickets
108
Inheritance pattern of hypophosphatemic rickets
X-linked dominant
109
Inheritance pattern of mitochondrial myopathies
Mitochondrial inheritance
110
Inheritance pattern that is more severe in females, no male-to-male inheritance and skips generations
X-linked recessive
111
Inheritance pattern transmitted through both parents, with fathers transmitting to all daughters but no sons
X-linked dominant
112
Inheritance pattern often due to enzyme deficiencies and usually seen in only one generation
Autosomal recessive
113
Inheritance pattern in which mothers transmit to 50% of daughters and sons
X-linked dominant
114
Inheritance pattern that is often pleiotropic and variably expressive
Autosomal dominant
115
Fragile X-syndrome and Alport syndrome have what type of inheritance pattern
X-linked dominant
116
What is crucial for diagnosis of Autosomal dominant disorders
Family history
117
On average, how many children are affected with one affected parent in autosomal dominant disorders
50% of children
118
Inheritance pattern in which females must be homozygous to be affected
X-linked recessive
119
Inheritance pattern that has variable expressivity in a population or even in families due to heteroplasmy
Mitochondrial inheritance
120
Inheritance pattern often due to defects in structural genes, no skipping of generations, and both male and female equally affected
Autosomal dominant
121
Cause of Prader-Willi syndrome in which to maternally imprinted genes are received with no parental gene.
Maternal uniparental disomy
122
Most common cause of Prader-Willi syndrome
Maternal imprinting with deleted or mutated paternal gene
123
Most common cause of Angelman syndrome
Paternal imprinting with deleted or mutated maternal gene
124
Imprinting defect that results in hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia
Prader-Willi syndrome
125
Cause of Angelman syndrome in which two paternally imprinted genes are received with no maternal gene
Paternal uniparental disomy
126
Presents with inappropriate laughter, seizures, ataxia, and severe intellectual disability
Angelman syndrome
127
Mechanism of imprinting
Inactivation by methylation
128
Hardy-Weinberg law assumptions
1. No mutation occurring at the locus
2. Natural selection is not occurring
3. Completely random mating
4. No net migration
129
Equation for Hardy-Weinberg
p^2 + 2pq = q^2 = 1
130
Frequency for heterozygosity
2pq
131
Frequency of X-linked recessive disease in males equals?
q
132
Frequency for homozygosity for allele A
p^2
133
Presence of genetically distinct cell lines in the same individual
Mosaicism
134
Mutation that arises after fertilization and propagates to multiple tissues or organs
Somatic mosaicism
135
Mutation in only in one egg or sperm resulting in disease but neither parent or relatives have disease
Gonadal mosaicism
136
Mutations at different loci producing similar phenotype
Locus heterogeneity
137
Different mutations in same loci producing the same phenotype
Allelic heterogeneity
138
Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrally inherited diseases
Heteroplasmy
139
Mechanism causing recessive disorder in offspring when only one parent is carrier
Uniparental disomy
140
Is uniparental disomy euploid or aneuploid
Euploid
141
Both alleles contribute to the phenotype of the heterozygote as in ABO blood typing
Codominance
142
Patient with same genotype have varying phenotypes as in NF1
Variable expressivity
143
Individuals with mutant genotype may or may not express mutant phenotype as in BRCA1 mutation
Incomplete penetrance
144
Mutation on one gene causes multiple phenotypic effects as in PKU
Pleiotropy
145
Increased severity or earlier onset of disease in succeeding generations as in Huntington disease
Anticipation
146
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
Loss of heterozygosity
147
Mutation that overpowers normal product as in Marfan syndrome
Dominant-negative mutation
148
Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance
Linkage disequilibrium
149
Function of kinases
Move phosphate from ATP sources
150
Function of phosphorylases
Move phosphate from non-ATP sources
151
Function of phosphatases
Remove phosphate groups
152
Function of hydroxylases
Move hydroxyl groups
153
Function of carboxylases
Move carboxyl groups
154
Enzyme group that requires biotin
Carboxylases
155
Function of dehydrogenases
Move electrons
156
Enzyme group involved in redox reactions
Dehydrogenases
