genetic disorders Flashcards
(126 cards)
1
Q
muscular dystrophy chromsome
A
sexlinked
2
Q
muscular dystrophy mutation
A
dystrophin protein
3
Q
muscular dystrophy effects
A
muscle wasing poor balance limited movement respiratory/heart problems
4
Q
muscular dystrophy cure
A
none
5
Q
muscular dystrophy treat
A
physical therapy steroids orthotics help
6
Q
Tay Sachs chromosome
A
15
7
Q
Tay Sachs mutation
A
hexosaminidase A
8
Q
Tay Sachs when do you die
A
4-5 yrs
9
Q
Tay Sachs symptoms
A
deafness blindness loss of muscle seizure iratability slowthgrowth
10
Q
Tay Sachs cure
A
none
11
Q
Tay Sachs treatment
A
only makes more comfortable
12
Q
Cystic Fibrosis chromosome
A
chromosome 7
13
Q
Cystic Fibrosis mutation
A
CFTR
14
Q
Cystic Fibrosis affects
A
Cl channel -respiratory system
15
Q
Cystic Fibrosis symptoms
A
thick mucus in lungs, intestines poor growth short breath salty tasting skin
16
Q
Cystic Fibrosis cure
A
noine
17
Q
Cystic Fibrosis treatment
A
antibiotics enzyme aids in digestion lung trasplants
18
Q
Cystic Fibrosis lifespan
A
mid 40s
19
Q
Huntington’s Disease chromosome
A
huntington gene chromosome 4
20
Q
Huntington’s Disease mutation
A
protein that damages basal ganglia cells in brain
21
Q
Huntington’s Disease symptoms
A
uncontrollable movement no coordination slow eye movements depression irritability loss of cognitive abilities and memory
22
Q
Huntington’s Disease cure
A
none
23
Q
Huntington’s Disease treatment
A
physical and occupationan-speech therapy
24
Q
Down Syndrome chromosom
A
trisomy 21
25
Down Syndrome symptoms
mental impairment stunted growth flat head and nose small hands and neck
26
Progeria chromosome
1
27
Progeria affects
production of LMNA
28
Progeria symptoms
skin condition limited growth small face and recessed jaw wrinkled skin] kidney failure other cardiovascular disease
29
Progeria cure
none
30
Progeria treatment
cardiovascular atery bypass surgery aspirin growth hormones
31
Turner’s Syndrome chromsome
chromsome nondisjunction
32
progeria lifespan
13
33
Turner’s Syndrome
short stature swelling limbs broad chest low hairline visual and hearing impairment
34
Turner’s Syndrome cure
no cure
35
Turner’s Syndrometreatment
growth homons to increase height estrogen replacement therapy to widen hips and grow breasts
36
turners syndrom are morelikely to develop
diabetes
37
Klinefelter’s syndrome
xxy
38
turners syndrom
xo
39
Klinefelter’s Syndrome chromsome
nondixjunction of x chromosome
40
Klinefelter’s Syndrome symptoms
weaker muscles taller than average little body hair broader hips large breasts lower energy
41
Klinefelter’s Syndrome cure
none
42
Klinefelter’s Syndrome treatment
plastic surgery to reduce beasts testosteone therapy to lok more like a male
43
hemophilia chromsome affects
impairs body ability to control blood clotting
44
hemophilia symptoms
internal and external bleedine joint damage frequent bruises heavy bleeding inability to control clotting
45
hemophilia cure
none
46
hemophilia treatment
regular infusions of deficient clotting factor gene therapy-replace missing gene
47
Marfan Syndrome chromsome
15
48
Marfan Syndrome causes
misfolding protein: fibrillin
49
Marfan Syndrome symptoms
above average height slender arms slender legs slender fingers and toes scoliosis osteoathritis farsighted fatigue heart murmurs
50
Marfan Syndrome cure
none
51
Marfan Syndrome treatment
blood pressure reducing drugs. to reduce h eart issues
52
Sickle Cell Anemia chromosome
chomosome 11
53
Sickle Cell Anemia mutates
hemoglobin gene
54
Sickle Cell Anemia sffects
oxygen transport aound body
55
Sickle Cell Anemia syptoms
sickle blood cells short of breath dizziness pale skin constant pain
56
Sickle Cell Anemia cure
none
57
Sickle Cell Anemia treatment
medicines induce hemoglobin creatiion and reduce pain -blood transfusions to prevent stroke and spleen issues
58
Phenylketonuria PKU chromosome
PAH gene
59
Phenylketonuria (PKU) protein affected
enzyme-phenylalanine hydroxylase
60
what does phenylalanine hydroxylase do
converts amino acids into important compounds
61
Phenylketonuria (PKU) symptoms
without treatment, pernament intellectual disabilities seizures behavorial problems musky odor because of extraphenylalanine and psychiatric disorders
62
Phenylketonuria (PKU) cure
none
63
Phenylketonuria (PKU) treatment
patients can be treated early so they havenormal development and able to manage Ph levels in their diet and medication
64
sexlinkedel
muscular dystrophy chromsome
65
dystrophin protein
muscular dystrophy mutation
66
muscle wasing poor balance limited movement respiratory/heart problems
muscular dystrophy effects
67
none
muscular dystrophy cure
68
physical therapy steroids orthotics help
muscular dystrophy treat
69
15
Tay Sachs chromosome
70
hexosaminidase A
Tay Sachs mutation
71
4-5 yrs
Tay Sachs when do you die
72
deafness blindness loss of muscle seizure iratability slowthgrowth
Tay Sachs symptoms
73
none
Tay Sachs cure
74
only makes more comfortable
Tay Sachs treatment
75
chromosome 7
Cystic Fibrosis chromosome
76
CFTR
Cystic Fibrosis mutation
77
Cl channel -respiratory system
Cystic Fibrosis affects
78
thick mucus in lungs, intestines poor growth short breath salty tasting skin
Cystic Fibrosis symptoms
79
noine
Cystic Fibrosis cure
80
antibiotics enzyme aids in digestion lung trasplants
Cystic Fibrosis treatment
81
mid 40s
Cystic Fibrosis lifespan
82
huntington gene chromosome 4
Huntington’s Disease chromosome
83
protein that damages basal ganglia cells in brain
Huntington’s Disease mutation
84
uncontrollable movement no coordination slow eye movements depression irritability loss of cognitive abilities and memory
Huntington’s Disease symptoms
85
none
Huntington’s Disease cure
86
physical and occupationan-speech therapy
Huntington’s Disease treatment
87
trisomy 21
Down Syndrome chromosom
88
mental impairment stunted growth flat head and nose small hands and neck
Down Syndrome symptoms
89
1
Progeria chromosome
90
production of LMNA
Progeria affects
91
skin condition limited growth small face and recessed jaw wrinkled skin] kidney failure other cardiovascular disease
Progeria symptoms
92
none
Progeria cure
93
cardiovascular atery bypass surgery aspirin growth hormones
Progeria treatment
94
chromsome nondisjunction
Turner’s Syndrome chromsome
95
13
progeria lifespan
96
short stature swelling limbs broad chest low hairline visual and hearing impairment
Turner’s Syndrome
97
no cure
Turner’s Syndrome cure
98
growth homons to increase height estrogen replacement therapy to widen hips and grow breasts
Turner’s Syndrometreatment
99
diabetes
turners syndrom are morelikely to develop
100
xxy
Klinefelter’s syndrome
101
xo
turners syndrom
102
nondixjunction of x chromosome
Klinefelter’s Syndrome chromsome
103
weaker muscles taller than average little body hair broader hips large breasts lower energy
Klinefelter’s Syndrome symptoms
104
none
Klinefelter’s Syndrome cure
105
plastic surgery to reduce beasts testosteone therapy to lok more like a male
Klinefelter’s Syndrome treatment
106
impairs body ability to control blood clotting
hemophilia chromsome affects
107
internal and external bleedine joint damage frequent bruises heavy bleeding inability to control clotting
hemophilia symptoms
108
none
hemophilia cure
109
regular infusions of deficient clotting factor gene therapy-replace missing gene
hemophilia treatment
110
15
Marfan Syndrome chromsome
111
misfolding protein: fibrillin
Marfan Syndrome causes
112
above average height slender arms slender legs slender fingers and toes scoliosis osteoathritis farsighted fatigue heart murmurs
Marfan Syndrome symptoms
113
none
Marfan Syndrome cure
114
blood pressure reducing drugs. to reduce h eart issues
Marfan Syndrome treatment
115
chomosome 11
Sickle Cell Anemia chromosome
116
hemoglobin gene
Sickle Cell Anemia mutates
117
oxygen transport aound body
Sickle Cell Anemia sffects
118
sickle blood cells short of breath dizziness pale skin constant pain
Sickle Cell Anemia syptoms
119
none
Sickle Cell Anemia cure
120
medicines induce hemoglobin creatiion and reduce pain -blood transfusions to prevent stroke and spleen issues
Sickle Cell Anemia treatment
121
PAH gene
Phenylketonuria PKU chromosome
122
enzyme-phenylalanine hydroxylase
Phenylketonuria (PKU) protein affected
123
converts amino acids into important compounds
what does phenylalanine hydroxylase do
124
without treatment, pernament intellectual disabilities seizures behavorial problems musky odor because of extraphenylalanine and psychiatric disorders
Phenylketonuria (PKU) symptoms
125
none
Phenylketonuria (PKU) cure
126
patients can be treated early so they havenormal development and able to manage Ph levels in their diet and medication
Phenylketonuria (PKU) treatment
