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Molecules to Medicine > Unit 2 - Week 2 > Flashcards

Unit 2 - Week 2 Flashcards

1
Q

______ is characterized by severe anemia in which RBCs are destroyed before being released into circulation.

A

Thalassemia Major

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2
Q

_______ can detect recognized microdeletions, recognized chromosomal rearrangements, and gene copy numbers; can be useful in diagnosing aneuploidies prenatally

A

FISH

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3
Q

_______ is less soluble than HbA and tends to form crystals

A

HbC

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4
Q

_______ are mutations common in hemoglobinopathies in Africa

A

alpha, beta-thal, C, and S

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5
Q

_______ are mutations common in hemoglobinopathies in East Mediterranean.

A

beta-thal and S

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6
Q

_______ are mutations common in hemoglobinopathies in Southeast Asia

A

alpha, beta-thal, and E

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7
Q

_______ are mutations common in hemoglobinopathies in West Pacific

A

Alpha, beta-thal, and E

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8
Q

_______ are qualitative hemoglobinopathies.

A

HbS, HbC, and HbE

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9
Q

_______ are quantitative hemoglobinopathies.

A

Thalassemias

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10
Q

_______ can detect aneuploidies, chromosomal deletions, duplications, or insertions of moderate to large size (>3-5 Mb), rearrangements

A

Chromosome Analysis

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11
Q

_______ can detect aneuploidies, unbalanced chromosomal rearrangements, chromosome deletions (>200kb), and chromosomal duplications (>400kb)

A

CMA

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12
Q

_______ can detect mutations in known genes, polymorphic variants, small deletions/insertions (~1-100nt); ideal for looking at sequence of known disease gene

A

DNA sequencing

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13
Q

_______ cannot detect deletions or rearrangements not tested for, duplications in gene regions, point mutations and small deletions

A

FISH

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14
Q

_______ cannot detect deletions/duplications below the limit of resolution, nucleotide mutations, balanced chromosomal rearrangement

A

CMA

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15
Q

_______ cannot detect regions of the gene outside of the region the test was designed for (specificity is frequently less than 100%); large deletions/insertions, rearrangements or most chromosomal abnormalities

A

DNA sequencing

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16
Q

_______ cannot detect single gene deletions, point mutations, small deletions, duplications, and insertions, methylation defects, and trinucleotide repeat abnormalities

A

Chromosome Analysis

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17
Q

_______ is 80% less soluble than HbA and forms long polymers that distort the shape of RBCs

A

HbS

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18
Q

_______ is a fatal condition due to homozygosity for the alpha-thalassemia-___ allele.

A

Hydrops fetalis; 1

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19
Q

_______ is caused by a decrease in β-globin synthesis due to mutations affecting transcription, RNA processing, or protein stability

A

Beta+ Thalassemia

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20
Q

_______ is caused by deletion of β-globin gene, nonsense mutation, frameshift mutation, or mutations that result in no RNA synthesis

A

Beta0 Thalassemia

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21
Q

_______ is caused by large deletions that remove the β-globin gene plus other genes in the β-cluster or LCR

A

Complex Thalassemia

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22
Q

_______ is characterized by attempted blood production results in thinning bone cortex, enlarged liver, and enlarged spleen.

A

Thalassemia Major

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23
Q

_______ is characterized by clinically normal symptoms and carrier status for the Beta-thalassemia allele.

A

Thalassemia Minor

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24
Q

_______ is less important genetically than other drug metabolism genes, because the population distribution of activity is continuous and unimodal

A

CYP3A

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25
Q

_______ is the mutational mechanism in achondroplasia

A

Gain of Function

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26
Q

_______ is the mutational mechanism in alpha-thalassemia

A

Loss of Function

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27
Q

_______ is the mutational mechanism in Charcot-Marie-Tooth Syndrome

A

Gain of Function

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28
Q

_______ is the mutational mechanism in Duchenne Muscular Dystrophy

A

Loss of Function

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29
Q

_______ is the mutational mechanism in Hemoglobin Kempsey

A

Gain of Function

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30
Q

_______ is the mutational mechanism in Hereditary Neuropathy with Predisposition to Pressure Palsy

A

Loss of Function

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31
Q

_______ is the mutational mechanism in Hereditary Persistence of Fetal Hemoglobin

A

Heterochromatic Expression

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32
Q

_______ is the mutational mechanism in Hereditary Retinoblastoma

A

Loss of Function

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33
Q

_______ is the mutational mechanism in Huntington Disease

A

Novel Property

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34
Q

_______ is the mutational mechanism in Osteogenesis Imperfecta Type 1A.

A

Loss of Function

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35
Q

_______ is the mutational mechanism in Sickle Cell Disease

A

Novel Property

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36
Q

_______ is the mutational mechanism in Turner Syndrome

A

Loss of Function

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37
Q

_______ is the step at which a mutation disrupts production of normal protein in Familial Hypercholesterolemia

A

Subcellular Localization

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38
Q

_______ is the step at which a mutation disrupts production of normal protein in Hemoglobin Kempsey

A

Function of correctly folded, assembled, and localized protein in normal amounts

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39
Q

_______ is the step at which a mutation disrupts production of normal protein in hemoglobinopathies

A

Protein folding

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40
Q

_______ is the step at which a mutation disrupts production of normal protein in Homocystinuria

A

Cofactor/Prosthetic Group Binding

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41
Q

_______ is the step at which a mutation disrupts production of normal protein in I-cell disease

A

Post-Translational Modification

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42
Q

_______ is the step at which a mutation disrupts production of normal protein in Osteogenesis Imperfecta

A

Assembly of monomers into a holomeric protein

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43
Q

_______ is the substrate for CYP2C9

A

Warfarin

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44
Q

_______ is the substrate for CYP2D6

A

Tricyclic Antidepressants; Codeine

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45
Q

_______ is the substrate for CYP3A.

A

Cyclosporin

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46
Q

_______ is the substrate for GP6D

A

Sulfonamide and Dapsone

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47
Q

_______ is the substrate for NAT

A

Isoniazid

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48
Q

_______ is the substrate for VKORC1

A

Warfarin

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49
Q

_______ is the substrate of TMPT

A

6-mercaptopurine; 6-thioguanine

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50
Q

_______ is used for small genomic deletions/insertions, probe size 100-200kb (much higher resolution than chromosome analysis).

A

CMA

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51
Q

_______ is used for suspected abnormality of chromosome number or structure.

A

Chromosome Analysis

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52
Q

_______ is used to detect chromosomal changes smaller than resolution of chromosomal analysis, works best in interphase cells.

A

FISH

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53
Q

_______ is used to find sequence changes in specific genes (must know or expect a diagnosis with an identified gene whose mutation is detectable and in a region actually sequenced.

A

DNA sequencing

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54
Q

_______ presents as disease-free since adequate levels of the γ chains are still made due to the disruption of the perinatal globin switch from γ to β

A

HPFH

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55
Q

_______-deficient individuals are susceptible to hemolytic anemia after drug exposures.

A

G6PD

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56
Q

6-mercaptopurine is metabolized by _______.

A

TMPT

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57
Q

6-thioguanine is metabolized by _______.

A

TMPT

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58
Q

alpha-thalassemia-__ allele is more common in Africa.

A

2

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59
Q

alpha-thalassemia-__ allele is more common in Southeast Asia.

A

1

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60
Q

alpha-thalassemia-__ allele is more common in the Mediterranean.

A

2

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61
Q

An individual who carries two different mutant alleles of the same gene

A

Compound heterozygote

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62
Q

Codeine is converted to ______ by _____ to be activated.

A

Morphine; CYP450

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63
Q

Codeine is metabolized by _______

A

CYP2D6

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64
Q

Cofactor administration may be a useful treatment in _______.

A

homocystinuria and biotinidase deficiency

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65
Q

Cylcosporin is metabolized by _______.

A

CYP3A

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66
Q

CYP2D6 is inhibited by _______.

A

Quinidine, fluoxetine, and paroxetine

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67
Q

CYP3A is induced by _______

A

Rifampin

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68
Q

CYP3A is inhibited by _______

A

Grapefruit Juice; Ketoconazole

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69
Q

Dapsone is metabolized by _______.

A

G6PD

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70
Q

Fluoxetine inhibits _______

A

CYP2D6

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71
Q

Grapefruit juice inhibits _______.

A

CYP3A

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72
Q

In emerging treatment models, what is a potential therapy for hemophilia?

A

Protein Replacement Therapy

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73
Q

In emerging treatment models, what is a potential therapy for Lysosomal storage diseases and alpha-1-antitrypsin?

A

Enzyme Replacement Therapy

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74
Q

Isoniazid is metabolized by _______.

A

NAT

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75
Q

Ketoconazole inhibits _______.

A

CYP3A

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76
Q

Paroxetine inhibits _______

A

CYP2D6

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77
Q

Presence of multiple common mutant alleles of the same gene in a population

A

Allelic heterogeneity

78
Q

Quinidine inhibits _______

A

CYP2D6

79
Q

Sandoff disease is largely caused by a defect in the ______ subunit of HexA

A

Beta

80
Q

Sulfonamide is metabolized by _______.

A

G6PD

81
Q

Tay-Sachs is largely caused by a defect in the ______ subunit of HexA

A

Alpha

82
Q

Tay-Sachs is largely caused by accumulation of _______.

A

GM2 ganglioside

83
Q

The _______ allele is characterized by a milder phenotype than β0 thalassemia because the γ gene is still active after birth instead of switching off as would normally occur

A

Delta-Beta Thalassemia

84
Q

The following problems are challenges of which treatment therapy: expensive: deliver to proper location difficult, risk of immune response to recombinant protein, delivery across blood-brain barrier is challenging, does not always correct preexisting damage

A

Protein Replacement Therapy

85
Q

The target of alpha1-antitrypsin (SERMINA1) is _______

A

elastase

86
Q

Treatment dosage for children with ALL must be decreased for deficiency in _______.

A

TMPT

87
Q

Treatment for PKU may involve _______

A

Low Phe diet, BH4 supplement, LNAA supplement, enzyme replacement therapy, gene therapy

88
Q

Tricyclic antidipressants are metabolized by _______.

A

CYP2D6

89
Q

Two causes of phenylketonuria are: _______

A

PAH defect (98%), tetrahydrobiopterin defect (1-2%)

90
Q

Warfarin is metabolized by _______.

A

VKORC1 and CYP2C9

91
Q

What are examples of compensation for novel deficits with novel drugs?

A

Farnesyl transferase inhibitors (progeria) and Angiotensin II Receptor Blockers (Marfan’s Syndrome)

92
Q

What are examples of small molecules that may be used in treatment of genetic diseases

A

Imatinib (Gleevec) for CML, Pharmacologic Chaperones

93
Q

What disoder is caused by mutation in the WT1 gene that results in sex reversal?

A

Denys-Drash and Frasier Syndromes

94
Q

What disorder is caused by a mutation in FGFR3?

A

Achondroplasia

95
Q

What disorder is caused by a mutation that decreases the body’s ability to convert testosterone to dihydrotestosterone?

A

5-alpha reductase deficiency

96
Q

What disorder is caused by mutation in GJB2?

A

Non-syndromic Deafness

97
Q

What disorder is characterized by ambiguous genitalia and other endocrine problems?

A

Congenital Adrenal Hyperplasia

98
Q

What disorder is characterized by learning disabilities, speech delays, developmental delays, behavioral and emotional difficulties, autism spectrum disorders, and tall stature?

A

Jacob’s Syndrome

99
Q

What disorder is characterized by short stature, normal intelligence, infertility, hormone dysfunction, broad chests, and low-set ears?

A

Turner Syndrome

100
Q

What disorder is characterized by tall stature and increased risk of learning disabilities, delayed speech, delayed motor milestones, seizures, and kidney abnormalities?

A

Triple XXX Syndrome

101
Q

What disorder is characterized by tall stature, small testes, reduced facial and body hair, infertility, hypospadias, and gynecomastia?

A

Klinefelter Syndrome

102
Q

What disorder is characterized by the following observations in childhood: learning disabilities, delayed speech and language, tendency toward being quiet?

A

Klinefelter Syndrome

103
Q

What disorder is characterized by the following symptoms at birth: prenatal cystic hygroma, webbed neck, puffy hands and feet, heart defects like coarctation of the aorta?

A

Turner Syndrome

104
Q

What is the function of DHH?

A

Nuclear hormone receptor upregulated by WNT4 that downregulates SOX9

105
Q

What is the function of FGF9?

A

Causes tubules from the mesonephric duct to penetrate the gonadal bridge (essential for differentiation of testes)

106
Q

What is the function of RSPO1?

A

Coactivator of WNT4 pathway

107
Q

What is the function of SF1/NR5A1?

A

Stimulate differentiation of Sertoli and Leydig cells

108
Q

What is the function of SOX9?

A

Promotes production of Anti-Mullerian Hormone/Inhibits WNT4

109
Q

What is the function of SRY?

A

Promotes production of Anti-Mullerian Hormone

110
Q

What is the function of WNT4?

A

Extracellular signal for differentiation of the ovaries

111
Q

What is the inheritance pattern of achondroplasia?

A

Autosomal Dominant

112
Q

What is the inheritance pattern of alpha-1 antitrypsin deficiency?

A

Autosomal Recessive

113
Q

What is the inheritance pattern of Duchenne Muscular Dystrophy?

A

X-linked Recessive

114
Q

What is the inheritance pattern of Familial hypercholesterolemia?

A

Autosomal Dominant

115
Q

What is the inheritance pattern of Fragile X syndrome?

A

X-linked Dominant

116
Q

What is the inheritance pattern of Hemophilia A?

A

X-linked Recessive

117
Q

What is the inheritance pattern of Huntington’s Disease

A

Autosomal Dominant

118
Q

What is the inheritance pattern of Hypophosphatemic Rickets?

A

X-linked Dominant

119
Q

What is the inheritance pattern of Kearns-Sayre?

A

Mitochondrial Inheritance

120
Q

What is the inheritance pattern of Leber Hereditary Optic Neuropathy?

A

Mitochondrial Inheritance

121
Q

What is the inheritance pattern of Lesch Nyhan?

A

X-linked Recessive

122
Q

What is the inheritance pattern of Marfan Syndrome?

A

Autosomal Dominant

123
Q

What is the inheritance pattern of MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes)?

A

Mitochondrial Inheritance

124
Q

What is the inheritance pattern of Myotonic Dystrophy Type 1?

A

Autosomal Dominant

125
Q

What is the inheritance pattern of Myotonic Epilepsy with Ragged Red Fibers (MERRF)?

A

Mitochondrial Inheritance

126
Q

What is the inheritance pattern of neurofibromatosis?

A

Autosomal Dominant

127
Q

What is the inheritance pattern of Osteogenesis Imperfecta 1?

A

Autosomal Dominant

128
Q

What is the inheritance pattern of phenylketonuria?

A

Autosomal Recessive

129
Q

What is the inheritance pattern of Polycystic Kidney Disease?

A

Autosomal Dominant

130
Q

What is the inheritance pattern of retinoblastoma?

A

Autosomal Dominant

131
Q

What is the inheritance pattern of Rett Syndrome?

A

X-linked Dominant

132
Q

What is the inheritance pattern of Tay-Sachs?

A

Autosomal Recessive

133
Q

What is the screening method for HbS?

A

MstII Endonuclease

134
Q

What is the treatment method for hyperphenylalaninemias?

A

Low Phe diet, BH4 supplement

135
Q

What is the treatment strategy for ADA deficiency?

A

Replace intracellular protein

136
Q

What is the treatment strategy for Hemophilia A and alpha-1-antitrypsin

A

Replace extracellular protein

137
Q

What is the treatment strategy in Gaucher’s disease?

A

Target intracellular protein

138
Q

What is the treatment therapy for alpha-1-antitrypsin?

A

Protein Replacement Therapy

139
Q

What is the treatment therapy for Fabry disease?

A

Protein Replacement Therapy

140
Q

What treatment strategy can be effective in correcting enzyme deficiencies, especially for extracellular proteins?

A

Protein Replacement Therapy

141
Q

Which disorder is caused by a single large deletion of mtDNA?

A

Kearns-Sayre

142
Q

Which disorder is caused by defect in Hypoxanthine phosphoribosyltransferase (HPRT1)?

A

Lesch-Nyhan Disease

143
Q

Which disorder is caused by defect in Methyl CpG Binding protein (MECP2)?

A

Rett Syndrome

144
Q

Which disorder is caused by deletion of mtDNA (MT-ND1, MT-ND5, MT-TH, MT-TL1 (80%), MT-TV)?

A

MELAS

145
Q

Which disorder is caused by hypermethylation at Xq27.3?

A

Fragile X

146
Q

Which disorder is caused by Hypermethylation of FMR1, which codes for FMRP?

A

Fragile X

147
Q

Which disorder is caused by mutation in 15q21.1?

A

Marfan Syndrome

148
Q

Which disorder is caused by mutation in 16p13.3 (85% of cases)?

A

Polycystic Kidney Disease

149
Q

Which disorder is caused by mutation in 17q11.2?

A

Neurofibromatosis

150
Q

Which disorder is caused by mutation in 19q13.3?

A

Myotonic Dystrophy Type 1

151
Q

Which disorder is caused by mutation in 4p16.3?

A

Achondroplasia

152
Q

Which disorder is caused by mutation in 4p16.3?

A

Huntington’s Disease

153
Q

Which disorder is caused by mutation in 4q22.1 (15% of cases)?

A

Polycystic Kidney Disease

154
Q

Which disorder is caused by mutation in 7q21.3?

A

Osteogenesis Imperfecta 1

155
Q

Which disorder is caused by mutation in COL1A1?

A

Osteogenesis Imperfecta 1

156
Q

Which disorder is caused by mutation in DMD at Xp21-21.1?

A

Muscular Dystrophy

157
Q

Which disorder is caused by mutation in DMPK?

A

Myotonic Dystrophy Type 1

158
Q

Which disorder is caused by mutation in F8?

A

Hemophilia A

159
Q

Which disorder is caused by mutation in FBN1?

A

Marfan Syndrome

160
Q

Which disorder is caused by mutation in fibroblast Growth Factor Receptor 3 (FGFR3)?

A

Achondroplasia

161
Q

Which disorder is caused by mutation in HTT

A

Huntington’s Disease

162
Q

Which disorder is caused by mutation in LDLK, APOB, and PCSK9?

A

Familial Hypercholesterolemia

163
Q

Which disorder is caused by mutation in MT-ND1, MT-ND, MT-ND4L, MT-ND6?

A

Leber Hereditary Optic Neuropathy

164
Q

Which disorder is caused by mutation in MT-TK?

A

MERRF

165
Q

Which disorder is caused by mutation in NF1 (neurofibromin) ?

A

Neurofibromatosis

166
Q

Which disorder is caused by mutation in PHEX?

A

Hypophosphatemia

167
Q

Which disorder is caused by mutation in Polycystin 1 and 2 (PKD1 and PKD2)?

A

Polycystic Kidney Disease

168
Q

Which disorder is caused by mutation in RB1?

A

Retinoblastoma

169
Q

Which disorder is caused by mutation in Xq28?

A

Hemophilia A

170
Q

Which disorder is characterized by a disorder of ocular, skeletal and cardiovascular connective tissue, aortic root enlargement, Ectopia lentis, and a variety of other signs?

A

Marfan Syndrome

171
Q

Which disorder is characterized by a malignant tumor of the retina?

A

Retinoblastoma

172
Q

Which disorder is characterized by adult onset muscular dystrophy, progressive muscle wasting and weakening, myotonia, cataracts, and cardiac conduction defects?

A

Myotonic Dystrophy Type 1

173
Q

Which disorder is characterized by bilateral renal cysts, cysts in other organs, vascular abnormalities, and end stage renal disease in 50% by age 60?

A

Polycystic Kidney Disease

174
Q

Which disorder is characterized by café au lait spots, neurofibromas, plexiform neurofibroma, freckling in axillary or inguinal area, optic glioma, Lisch nodules, and osseus lesions?

A

Neurofibromatosis

175
Q

Which disorder is characterized by high cholesterol and LDL levels, xanthomas, and premature coronary artery disease and death?

A

Familial Hypercholesterolemia

176
Q

Which disorder is characterized by hypophosphatemia, short stature, and bone deformities?

A

Hypophosphatemia

177
Q

Which disorder is characterized by intellectual disabilities (dysmorphic features: large ears, long face, macroorchidism), autistic behavior, social anxiety, hand-flapping/biting, and aggression?

A

Fragile X

178
Q

Which disorder is characterized by loss of normal movement and coordination, loss of communication skills, failure to thrive, seizures, abnormal hand movements?

A

Rett Syndrome

179
Q

Which disorder is characterized by multiple fractures, mild short stature, adult onset hearing loss, and blue sclera?

A

Osteogenesis Imperfecta 1

180
Q

Which disorder is characterized by muscle symptoms, seizures, ataxia, dementia, ragged-red fibers?

A

MERRF

181
Q

Which disorder is characterized by muscle weakness, seizures, repetitive stroke-like episodes, elevated lactic acidosis?

A

MELAS

182
Q

Which disorder is characterized by neurological and behavioral abnormalities, overproduction of uric acid, self-injury?

A

Lesch-Nyhan Disease

183
Q

Which disorder is characterized by o Eyes affected, cardiac conduction defects, ataxia, deafness, kidney problems?

A

Kearns-Sayre

184
Q

Which disorder is characterized by progressive muscle weakness proximal to distal, calf hypertrophy, dilated cardiomyopathy, CK levels 10 times higher, onset before 15, wheelchair bound before 13, death in 30s?

A

Duchenne Muscular Dystrophy

185
Q

Which disorder is characterized by progressive muscle weakness proximal to distal, calf hypertrophy, dilated cardiomyopathy, CK levels 5 times higher, onset later, wheelchair bound before 16, death in 40s?

A

Becker Muscular Dystropy

186
Q

Which disorder is characterized by progressive neuronal degeneration causing motor, cognitive, and psychiatric disturbances that result in death~15 years after onset?

A

Huntington’s Disease

187
Q

Which disorder is characterized by small stature (about four feet), rhizomelic limb shortening, short fingers, genu varum, trident hands, large head/frontal bossing, midfacial retrusion, small cranium magnum/craniocervical instability?

A

Achondroplasia

188
Q

Which disorder is characterized by spontaneous bleeding into muscles, joints or intercranially, excessive bruising, prolonged bleeding after injury or excision, delayed wound healing?

A

Hemophilia A

189
Q

Which disorder is characterized by vision loss (50% of males; 15% of females)?

A

Leber Hereditary Optic Neuropathy

190
Q

Which disorder may be treated by cochlear implants?

A

Non-syndromic Deafness

191
Q

Which disorder may be treated by treating complications and, more controversially, surgical limb lengthening and Growth Hormone therapy?

A

Achondroplasia

Molecules to Medicine (5 decks)

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