inheritance Flashcards
1
Q
ADPKD
A
AD
2
Q
Achondroplasia
A
AD
3
Q
FAP
A
AD
4
Q
Familial hypercholesterolemia
A
AD
5
Q
Osler- Weber-Rendu syndrome
A
AD
6
Q
Hereditary spherocytosis
A
AD
7
Q
Huntington
A
AD
8
Q
Marfan
A
AD
9
Q
MEN
A
AD
10
Q
Neurofibromatosis 1, 2
A
AD
11
Q
Tuberous sclerosis
A
AD
12
Q
VHL disease
A
AD
13
Q
acute intermittent porphyria
A
AD
14
Q
Albinism
A
AR
15
Q
ARPKD
A
AR
16
Q
Cystic fibrosis
A
AR
17
Q
Glycogen storage diseases
A
AR
18
Q
Hemochromatosis
A
AR
19
Q
Mucopolysaccharidoses
A
AR
20
Q
PKU
A
AR
21
Q
SCD
A
AR
22
Q
Sphigolipidoses
A
AR
23
Q
Thalassemias
A
AR
24
Q
x- linked recessive
A
"oblivious female will give her boys her x-linked disorders" ocular albinism Fabry disease Wiskott-Aldrich G6PD deficiency Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch- Nyhan syndrome Duchenne muscular dystrophy
25
Ocular albinism
XLR
26
Fabry
XLR
27
Wiskott-Aldrich
XLR
28
G6PD
XLR
29
Hunter
XLR
30
Bruton
XLR
31
Hemophilia A and B
XLR
32
Lesch-Nyhan
XLR
33
Duchenne muscular dystrophy
XLR
34
ragged red muscle fibers seen on biopsy
mitochondrial myopathies with mitochondrial inheritance
35
Leber hereditary optic neuropathy
mitochondrial inheritance
36
Leigh syndrome (subacute sclerosing encephalopathy)
mitochondrial inheritance
37
Anticipation
age of onset is earlier and earlier in successive generations
or, severity of disease worsens with successive generations
38
incomplete penetrance
not all with the mutant genotype show the mutant phenotype
39
codominance
2 alleles, neither is dominant
40
variable expression
severity of phenotype varies from one individual to another
41
pleiotropy
single gene has more than one effect on phenotype
42
locus heterogeneity
mutations at different loci can produce the same phenotype
43
mosaicism
cells in the body have different genetic makeup
44
imprinting
phenotype differences depend on whether mutation comes from mother or father's genetic material (PW and Angelman)
45
Prader-Willi
deletion of father's gene (proximal portion of chromosome 15q11-q13) on chromosome 15, with normal maternal allele inactivation, leading to a deficit of genetic material
```
symptoms:
hyperphagia
obesity
short stature (partial GH deficiency)
intellectual disability
behavior disorders (tantrums, skin- picking, OCD)
hypogonadotropic hypogonadism leading to genital hypoplasia
osteoporosis
delayed menarch
```
diagnosis: confirmed with FISH (fluorescence in- situ hybridization)
treatmen: limit access to food
GH if short stature
POP
Prader-Willi
Overeating
Paternal gene deleted
46
Angelman
deletion of mother's gene on chromosome 15, with normal paternal allele inactivation, leading to lack of genetic material
Angels miss their moms
```
symptoms:
seizure
ataxia
inappropriate laughter
intellectual disability
"happy puppet"
```
```
MAMA
Maternal gene
Angelman
Mood
Ataxia
```
47
Hardy-Weinberg
```
p+q=1
p*p +2pq + q*q= 1
p*p= frequency of homozygous p
q*q= frequency of homozygous q
2pq= frequency of heterozygosity
```
