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Biochem 4 > Diseases Altogether > Flashcards

Diseases Altogether Flashcards

1
Q

Swyer syndrome/ 46, XY gonadal dysgenesis gene

A

SRY gene

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2
Q

Huntington Disease inheritance

A

Autosomal dominant

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3
Q

Tay-Sachs mutation

A
  1. Point mutation G to C = alternate splicing

2. 4 bp insertion = frameshift = nonsense

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4
Q

Retinoblastoma mutation

A

Need second mutation for disease, 90% penetrance

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5
Q

Hemophilia B inheritance

A

X-linked recessive

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6
Q

Osteogenesis imperfecta symptoms

A
  1. Brittle bones

2. Heterogeneity

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7
Q

Tay-Sachs gene

A

Hex-A gene

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8
Q

Hereditary Hemochromatosis gene

A

HFE (high iron)

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9
Q

Osteogenesis imperfecta gene

A

Col1A1 gene on chromosome 17 and col1A2 gene on chromosome 7

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10
Q

Xerderma Pigmentosum inheritance

A

Autosomal recessive

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11
Q

Angelman mutation

A

Deletion on maternal chromosome 15 + silence on paternal chromosome (imprinting)

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12
Q

Marfan syndrome gene

A

Fibrillin (FBN-1)

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13
Q

Ehlers-Danlos symptoms

A

Facial elasticity

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14
Q

Phenylketonuria symptoms

A
  1. Intellectual disabilities
  2. Seizures
  3. Tremors
  4. Hyperactivity
  5. Stunted growth
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15
Q

Li-Fraumeni syndrome symptoms

A

90% chance of developing cancer of any type

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16
Q

Rhett syndrome inheritance

A

X-linked dominant

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17
Q

Hurler syndrome gene

A

A-L-iduronidase (A= alpha)

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18
Q

Familial breast cancer mutation

A

Loss of function

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19
Q

Phenylketonuria inheritance

A

Autosomal recessive

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20
Q

Hypohydrotic ectodermal dysplasia symptoms

A
  1. Abnormal development of nails, hair, and sweat glands

2. Males have a reduced ability to sweat

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21
Q

Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome inheritance

A

Autosomal dominant

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22
Q

Osteogenesis Imperfecta inheritance

A

Autosomal dominant

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23
Q

Retinoblastoma inheritance

A

Autosomal dominant

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24
Q

Marfan syndrome mutation

A

Pleiotropic

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25
Q

Achondroplasia mutation

A

Point mutation G to A = missense, gain of function

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26
Q

46, XX testicular disorder of sex development mutation

A

Translocation of SRY gene onto x-chromosome

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27
Q

Fragile X mutation

A

CGG repeat expansion in promoter region, “anticipation”

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28
Q

Becker muscular dystrophy gene

A

Dystrophin

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29
Q

Sickle Cell disease gene

A

B-globin protein

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30
Q

Swyer syndrome/ 46, XY gonadal dysgenesis symptoms

A
  1. Genotype male develops female

2. Fertility and sex characteristic problems

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31
Q

46, XX testicular disorder of sex development symptoms

A

Individuals develop as males

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32
Q

Huntington Disease symptoms

A
  1. Progressive dementia
  2. Choleric movements
  3. Delayed onset
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33
Q

Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis inheritance

A

Y-linked

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34
Q

Prader-Willi symptoms

A
  1. Short stature
  2. Hypotonia
  3. Small hands and feet
  4. Obesity
  5. Hypogonadism
  6. Mild to moderate mental retardation
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35
Q

Achondroplasia inheritance

A

Autosomal dominant

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36
Q

Duchenne Muscular Dystrophy inheritance

A

X-linked recessive

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37
Q

Neurofibromatosis inheritance

A

Autosomal dominant

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38
Q

Myotonic dystrophy gene

A

Myotonic dystrophy protein kinase (DMPK)

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39
Q

Charcot Marie Tooth symptoms

A
  1. Neurological disorder

2. Progressive atrophy of distal limbs

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40
Q

Prader-Willi gene

A

SNRPN gene

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41
Q

Angelman symptoms

A
  1. Severe mental retardation
  2. Seizures
  3. Ataxic gait
  4. Characteristic stance
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42
Q

Myotonic dystrophy mutation

A

Expansion of trinucleotide repeat (CIG) in 3’ untranslated portion of gene

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43
Q

Hereditary hemochromatosis mutation

A

Missense

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44
Q

Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome symptoms

A
  1. 90% will develop cancer

2. Adenoma to carcinoma development = 2/3 years (normal is 8/10 years)

45
Q

Retinoblastoma symptoms

A

Formation of retinoblastoma

46
Q

A-thalassemia mutation

A

Aberrant recombination = large deletion

47
Q

B-thalassemia symptoms

A

Decreased production of B-globin

48
Q

Becker Muscular dystrophy mutation

A

Large in-frame deletion

49
Q

Hemophilia B gene

A

Factor IX gene

50
Q

Retinoblastoma gene

A

Retinoblastoma-1 (RB-1)

51
Q

Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis gene

A

SHOX gene

52
Q

B-thalassemia mutation

A

Many types of point mutation = missense or nonsense

53
Q

A thalassemia symptoms

A
  1. Misaligned chromosomes

2. Anemia

54
Q

Sickle Cell disease inheritance

A

Autosomal recessive

55
Q

Lesch-Nyhan inheritance

A

X-linked recessive

56
Q

Hurler syndrome inheritance

A

Autosomal recessive

57
Q

Duchenne Muscular Dystrophy mutation

A

Small frame shift deletion

58
Q

B-thalassemia inheritance

A

Autosomal recessive

59
Q

Familial Hypercholesterolemia symptoms

A
  1. Elevated LDL
  2. Heart disease
  3. Xanthomatas
  4. Variable severity homo versus heterozygous
60
Q

Rhett syndrome symptoms

A
  1. Autistic behaviors
  2. Hand wringing
  3. Intellectual disabilities
  4. Seizures
  5. Gait ataxia
  6. Heart rhythm and breathing abnormalities
  7. Skewed x-inactivation patterns
61
Q

Achondroplasia symptoms

A
  1. Short-limbed dawrfism

2. Homozygotes do not survive infancy

62
Q

Becker Muscular Dystrophy inheritance

A

X-linked recessive

63
Q

Familial Hypercholesterolemia mutation

A

Loss of function

64
Q

Lesch-Nyhan gene

A

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)

65
Q

Tay-Sachs inheritance

A

Autosomal recessive

66
Q

Swyer syndrome/ 46, XY gonadal dysgenesis inheritance

A

Y-linked

67
Q

46, XX testicular disorder of sex development gene

A

SRY gene

68
Q

Li-Fraumeni syndrome gene

A

TP53

69
Q

Neurofibromatosis Type 1 mutation

A

Point mutation = nonsense

70
Q

Hypohydrotic ectodermal dysplasia inheritance

A

X-linked recessive

71
Q

Phenylketonuria gene

A

Phenylalanine hydroxylases (PAH)

72
Q

Hereditary Hemochromatosis symptoms

A
  1. Accumulation of Fe in organs
  2. Cardiac failure
  3. Delayed onset
73
Q

Familial breast cancer gene

A

BRCA 1 + BRCA 2

74
Q

Hurler syndrome symptoms

A
  1. Progressive intellectual disabilities
  2. Skeletal abnormalities
  3. Short stature
  4. Corneal clouding
  5. Course facial features
75
Q

Li-Fraumeni syndrome inheritance

A

Autosomal dominant

76
Q

Becker Muscular Dystrophy symptoms

A
  1. Progressive weakness and muscle loss

2. High creatine levels

77
Q

Angelman gene

A

UBE3A

78
Q

Sickle Cell disease mutation

A

Point mutation A to T = missense

79
Q

Tay-Sachs symptoms

A
  1. Lysosomal storage disorder

2. Neuron damage

80
Q

Neurofibromatosis gene

A

Neurofibromin-1 (NF-1)

81
Q

46, XX testicular disorder of sex development inheritance

A

Y-linked

82
Q

Fragile X syndrome gene

A

FMR1 + FMRP

83
Q

Neurofibromatosis symptoms

A
  1. Cafe au last spots
  2. Neurofibromas
  3. Lisch nodules (eye)
  4. Learning disabilities
84
Q

Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis symptoms

A

Bone growth disorder

85
Q

Hereditary Hemochromatosis inheritance

A

Autosomal recessive

86
Q

Ehlers-Danlos inheritance

A

Autosomal dominant

87
Q

Familial hypercholesterolemia gene

A

LDL receptor

88
Q

Achondroplasia gene

A

Fibroblast growth factor receptor gene (FGFR-3)

89
Q

Huntington Disease mutation

A

Trinucleotide repeat expansion

90
Q

Huntington Disease gene

A

Huntingtin HD

91
Q

Fragile X symptoms

A
  1. Intellectual disability
  2. Distinct facial appearance
  3. More common in males
92
Q

Prader-Willi mutation

A

Deletion on paternal chromosome 15 + silence on maternal chromosome (imprinting)

93
Q

Hemophilia B mutation

A

Point mutation A to G

94
Q

Rhett syndrome gene

A

Methyl-CpG binding protein 2 (MeCP2)

95
Q

Fragile X syndrome inheritance

A

X-linked dominant

96
Q

Marfan syndrome inheritance

A

Autosomal dominant

97
Q

Ehlers-Danlos gene

A

Collagen proteins

98
Q

Familial Hypercholestemia inheritance

A

Autosomal dominant

99
Q

Marfan syndrome symptoms

A
  1. Tall stature
  2. Arachnodactyly
  3. Cardio vascular problems
  4. Variable severity
100
Q

Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome gene

A

MSH2 + MLH1

101
Q

Lesch-Nyhan symptoms

A
  1. Premature gout
  2. Kidney stones
  3. Decreased dopamine
  4. Low IQ
  5. Spastic cerebral palsy
  6. Dystonia
  7. Self-mutilation
  8. Aggressive behavior
102
Q

Duchenne Muscular Dystrophy symptoms

A
  1. Progressive weakness and muscle loss
  2. High creatine levels
  3. Growers signs
  4. Female mosaicism
103
Q

A- thalassemia gene

A

A-globin gene

104
Q

Duchenne Muscular Dystrophy gene

A

Dystrophin

105
Q

Myotonic dystrophy inheritance

A

“Anticipation”

106
Q

Xerderma Pigmentosum symptoms

A
  1. 1000 x more likely to develop skin cancer
107
Q

B-thalassemia gene

A

B-globin gene

108
Q

Charcot-Marie Tooth gene

A

PMP 22

109
Q

Charcot Marie Tooth mutation

A

Misalignment in recombination = large insertion of 1.5 million bp

Biochem 4 (9 decks)

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