Diseases Altogether Flashcards
1
Q
Swyer syndrome/ 46, XY gonadal dysgenesis gene
A
SRY gene
2
Q
Huntington Disease inheritance
A
Autosomal dominant
3
Q
Tay-Sachs mutation
A
- Point mutation G to C = alternate splicing
2. 4 bp insertion = frameshift = nonsense
4
Q
Retinoblastoma mutation
A
Need second mutation for disease, 90% penetrance
5
Q
Hemophilia B inheritance
A
X-linked recessive
6
Q
Osteogenesis imperfecta symptoms
A
- Brittle bones
2. Heterogeneity
7
Q
Tay-Sachs gene
A
Hex-A gene
8
Q
Hereditary Hemochromatosis gene
A
HFE (high iron)
9
Q
Osteogenesis imperfecta gene
A
Col1A1 gene on chromosome 17 and col1A2 gene on chromosome 7
10
Q
Xerderma Pigmentosum inheritance
A
Autosomal recessive
11
Q
Angelman mutation
A
Deletion on maternal chromosome 15 + silence on paternal chromosome (imprinting)
12
Q
Marfan syndrome gene
A
Fibrillin (FBN-1)
13
Q
Ehlers-Danlos symptoms
A
Facial elasticity
14
Q
Phenylketonuria symptoms
A
- Intellectual disabilities
- Seizures
- Tremors
- Hyperactivity
- Stunted growth
15
Q
Li-Fraumeni syndrome symptoms
A
90% chance of developing cancer of any type
16
Q
Rhett syndrome inheritance
A
X-linked dominant
17
Q
Hurler syndrome gene
A
A-L-iduronidase (A= alpha)
18
Q
Familial breast cancer mutation
A
Loss of function
19
Q
Phenylketonuria inheritance
A
Autosomal recessive
20
Q
Hypohydrotic ectodermal dysplasia symptoms
A
- Abnormal development of nails, hair, and sweat glands
2. Males have a reduced ability to sweat
21
Q
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome inheritance
A
Autosomal dominant
22
Q
Osteogenesis Imperfecta inheritance
A
Autosomal dominant
23
Q
Retinoblastoma inheritance
A
Autosomal dominant
24
Q
Marfan syndrome mutation
A
Pleiotropic
25
Achondroplasia mutation
Point mutation G to A = missense, gain of function
26
46, XX testicular disorder of sex development mutation
Translocation of SRY gene onto x-chromosome
27
Fragile X mutation
CGG repeat expansion in promoter region, “anticipation”
28
Becker muscular dystrophy gene
Dystrophin
29
Sickle Cell disease gene
B-globin protein
30
Swyer syndrome/ 46, XY gonadal dysgenesis symptoms
1. Genotype male develops female
| 2. Fertility and sex characteristic problems
31
46, XX testicular disorder of sex development symptoms
Individuals develop as males
32
Huntington Disease symptoms
1. Progressive dementia
2. Choleric movements
3. Delayed onset
33
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis inheritance
Y-linked
34
Prader-Willi symptoms
1. Short stature
2. Hypotonia
3. Small hands and feet
4. Obesity
5. Hypogonadism
6. Mild to moderate mental retardation
35
Achondroplasia inheritance
Autosomal dominant
36
Duchenne Muscular Dystrophy inheritance
X-linked recessive
37
Neurofibromatosis inheritance
Autosomal dominant
38
Myotonic dystrophy gene
Myotonic dystrophy protein kinase (DMPK)
39
Charcot Marie Tooth symptoms
1. Neurological disorder
| 2. Progressive atrophy of distal limbs
40
Prader-Willi gene
SNRPN gene
41
Angelman symptoms
1. Severe mental retardation
2. Seizures
3. Ataxic gait
4. Characteristic stance
42
Myotonic dystrophy mutation
Expansion of trinucleotide repeat (CIG) in 3’ untranslated portion of gene
43
Hereditary hemochromatosis mutation
Missense
44
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome symptoms
1. 90% will develop cancer
| 2. Adenoma to carcinoma development = 2/3 years (normal is 8/10 years)
45
Retinoblastoma symptoms
Formation of retinoblastoma
46
A-thalassemia mutation
Aberrant recombination = large deletion
47
B-thalassemia symptoms
Decreased production of B-globin
48
Becker Muscular dystrophy mutation
Large in-frame deletion
49
Hemophilia B gene
Factor IX gene
50
Retinoblastoma gene
Retinoblastoma-1 (RB-1)
51
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis gene
SHOX gene
52
B-thalassemia mutation
Many types of point mutation = missense or nonsense
53
A thalassemia symptoms
1. Misaligned chromosomes
| 2. Anemia
54
Sickle Cell disease inheritance
Autosomal recessive
55
Lesch-Nyhan inheritance
X-linked recessive
56
Hurler syndrome inheritance
Autosomal recessive
57
Duchenne Muscular Dystrophy mutation
Small frame shift deletion
58
B-thalassemia inheritance
Autosomal recessive
59
Familial Hypercholesterolemia symptoms
1. Elevated LDL
2. Heart disease
3. Xanthomatas
4. Variable severity homo versus heterozygous
60
Rhett syndrome symptoms
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
Achondroplasia symptoms
1. Short-limbed dawrfism
| 2. Homozygotes do not survive infancy
62
Becker Muscular Dystrophy inheritance
X-linked recessive
63
Familial Hypercholesterolemia mutation
Loss of function
64
Lesch-Nyhan gene
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)
65
Tay-Sachs inheritance
Autosomal recessive
66
Swyer syndrome/ 46, XY gonadal dysgenesis inheritance
Y-linked
67
46, XX testicular disorder of sex development gene
SRY gene
68
Li-Fraumeni syndrome gene
TP53
69
Neurofibromatosis Type 1 mutation
Point mutation = nonsense
70
Hypohydrotic ectodermal dysplasia inheritance
X-linked recessive
71
Phenylketonuria gene
Phenylalanine hydroxylases (PAH)
72
Hereditary Hemochromatosis symptoms
1. Accumulation of Fe in organs
2. Cardiac failure
3. Delayed onset
73
Familial breast cancer gene
BRCA 1 + BRCA 2
74
Hurler syndrome symptoms
1. Progressive intellectual disabilities
2. Skeletal abnormalities
3. Short stature
4. Corneal clouding
5. Course facial features
75
Li-Fraumeni syndrome inheritance
Autosomal dominant
76
Becker Muscular Dystrophy symptoms
1. Progressive weakness and muscle loss
| 2. High creatine levels
77
Angelman gene
UBE3A
78
Sickle Cell disease mutation
Point mutation A to T = missense
79
Tay-Sachs symptoms
1. Lysosomal storage disorder
| 2. Neuron damage
80
Neurofibromatosis gene
Neurofibromin-1 (NF-1)
81
46, XX testicular disorder of sex development inheritance
Y-linked
82
Fragile X syndrome gene
FMR1 + FMRP
83
Neurofibromatosis symptoms
1. Cafe au last spots
2. Neurofibromas
3. Lisch nodules (eye)
4. Learning disabilities
84
Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis symptoms
Bone growth disorder
85
Hereditary Hemochromatosis inheritance
Autosomal recessive
86
Ehlers-Danlos inheritance
Autosomal dominant
87
Familial hypercholesterolemia gene
LDL receptor
88
Achondroplasia gene
Fibroblast growth factor receptor gene (FGFR-3)
89
Huntington Disease mutation
Trinucleotide repeat expansion
90
Huntington Disease gene
Huntingtin HD
91
Fragile X symptoms
1. Intellectual disability
2. Distinct facial appearance
3. More common in males
92
Prader-Willi mutation
Deletion on paternal chromosome 15 + silence on maternal chromosome (imprinting)
93
Hemophilia B mutation
Point mutation A to G
94
Rhett syndrome gene
Methyl-CpG binding protein 2 (MeCP2)
95
Fragile X syndrome inheritance
X-linked dominant
96
Marfan syndrome inheritance
Autosomal dominant
97
Ehlers-Danlos gene
Collagen proteins
98
Familial Hypercholestemia inheritance
Autosomal dominant
99
Marfan syndrome symptoms
1. Tall stature
2. Arachnodactyly
3. Cardio vascular problems
4. Variable severity
100
Hereditary non-polyposis colon cancer (HNPCC) / Lynch syndrome gene
MSH2 + MLH1
101
Lesch-Nyhan symptoms
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
Duchenne Muscular Dystrophy symptoms
1. Progressive weakness and muscle loss
2. High creatine levels
3. Growers signs
4. Female mosaicism
103
A- thalassemia gene
A-globin gene
104
Duchenne Muscular Dystrophy gene
Dystrophin
105
Myotonic dystrophy inheritance
“Anticipation”
106
Xerderma Pigmentosum symptoms
1. 1000 x more likely to develop skin cancer
107
B-thalassemia gene
B-globin gene
108
Charcot-Marie Tooth gene
PMP 22
109
Charcot Marie Tooth mutation
Misalignment in recombination = large insertion of 1.5 million bp
