Genetics I Flashcards

1
Q

codominance

A

both alleles contribute to phenotype

ABO blood group

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

variable expressivity

A

phenotype varies with same genotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

incomplete penetrance

A

not all individuals with mutant genotype show phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

pleiotrophy

A

one gene contributes multiple phenotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

anticipation

A

increased severity and earlier onset disease over multi generations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

loss of heterozygosity

A

two hit hypothesis

inherited mutation - tumor suppressor gene

complementary allele must be mutated as well

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

dominant negative mutation

A

heterozygote produces nonfunctional altered protein also prevents normal gene product from functioning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

linkage disequilibrium

A

tendency certain alleles at 2 loci to occur together

more or less often than by chance alone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

mosaicism

A

distinct cell line same individual

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

mccune albright syndrome

A

mutation GPCR

unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

survivable if patient has mosaicism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

locus heterogeneity

A

mutation at different loci - similar phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

allelic heterogeneity

A

different mutation same loci - similar phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

heteroplasmy

A

variable expression of mitochondria inherited disease

both normal and mutated mito DNA present

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

uniparental disomy

A

2 copies chromosome 1 parent
no copies from other parent

individual is euploid - normal # chromosomes

heterodisomy - meiosis I error
isodisomy - meosis II error

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

hardy weinberg

A

p2 + 2pq + q2 = 1
p + q = 1

frequency X-linked recessive - males = q / female = q2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

assumption hardy weinbery

A

no mutation
natural selection no occurring
random mating
no migration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

prader willi and angelman syndrome

A

deletions chromosome 15

18
Q

prader willi syndrome

A

maternal imprinting - inactivated
chromosome 15

gene mom normally silent
paternal gene deleted

hyperphagia, obesity, intellect disability, hypogonadism

19
Q

angelman syndrome

A

paternal imprinting - inactivated
chromosome 15

gene dad normal silent
maternal gene deleted

inappropriate laughter, seizure, ataxia, intellect disability

20
Q

imprinting

A

one allele inactivated - methylation

21
Q

autosomal dominant

A

most generations
male and female affected

often structural gene defect

22
Q

autosomal recessive

A

seen 1 generation only

often enzyme deficiency

23
Q

X-linked recessive

A

son heterozygote mom - 50% chance affected

no male to male transmission

skips generations

24
Q

X-linked dominant

A

father transmit to all daughter

mother transmit to 50% of daughter and sons

25
mitochondrial inheritance
transmitted only through mother ex/ mito myopathy - ragged red fibers
26
auto dominant polycystic kidney disease
massive enlargement kidneys mutation PKD1 - chromosome 16 - MC or mutation PKD2 - chromosome 4
27
familial adenomatous polyposis
autosomal dominant mutation chromosome 5q = APC gene colon covered adenomatous polyps
28
familal hypercholesterolemia
autosomal dominant defective LDL receptor tendon xanthoma - achilles
29
hereditary hemorrhagic telangiectasia
autosomal dominant disorder blood vessels telangiectasia, recurrent epistaxis, skin discolorations -arteriovenous malformation
30
osler weber rendu syndrome
hereditary hemorrhagic telangiectasia
31
hereditary spherocytosis
autosomal dominant mutation spectrin or ankyrin RBCs hemolytic anemia increased MCHC and RDW tx - splenectomy
32
tx hereditary spherocytosis
splenectomy
33
huntington disease
autosomal dominant depression, dementia, chorea movement trinucleotide CAG repeat - chromosome 4 anticipation
34
li-fraumeni syndrome
autosomal dominant abnormal TP53 multi malignancy early age SBLA cancer syndrome -sarcoma, breast, leukemia, adrenal gland
35
marfan syndrome
autosomal dominant chromosome 15 - mutation fibrin - scaffold for elastin hypermobile joint, tall and skinny, subluxation of lens, aortic dissection
36
MEN
autosomal dominant multiple endocrine neoplasias -1, 2A, 2B
37
MEN1
MEN1 gene
38
MEN2
RET gene
39
NF1
von-recklinghausen disease autosomal dominant cafe au lait spots - cutaneous neurofibroma - optic glioma, pheochromocytoma, lisch nodule (iris hamartoma) chromosome 17
40
NF2
autosomal dominant chromosome 22 bilateral acoustic neuroma, juvenile cataract, meningioma, ependymoma
41
tuberous sclerosis
autosomal dominant numerous benign hamartomas
42
von hippel lindau disease
autosomal dominant deletion VHL - tumor suppressor chromosome 3 develop numerous tumors