Re Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Beta thalassemia

A

Ar

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

Albinism

A

At

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

Alpha thalassemia

A

X lr

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

Juvenile Tay Sachs

A

Compound heterozygote

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

Achondroplasia

A

Allergic heterogeneity

Fgfr

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

Familial hypercholesteremia

A

Haploinsufficiency

Locus heterogeneity

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

Duchenne and Becker

A

Allelic heterogeneity

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

Alpha thalassemia stuff

A

Atrx deletions

Locus heterogeneity

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

Hyphosphatemia

A

Variable expression

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

Rhett syndrome

A

Sex limited

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

Who gets affected with cellular interference

A

Heterozygote X

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

Multiple sclerosis

A

Penetrance varies

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

Lhon

A

Locus h.

Phenotype h.

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

Under expression and over expression

A

Haplo. And trisomy

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

Dm2

A

No Anticipation cctg

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

Dm1 anticipation

A

Different bet men and women

17
Q

Fried rich ataxia

A

gaa no anticipation ar

18
Q

Spinal and bulbar muscular atrophy

A

Xlr CAG

19
Q

Reifenstein

A

Partia

lof of steroid receptor

20
Q

SBMA and AIS

A

Allelic h.

21
Q

sbma

A

Er repeat

22
Q

Defects in 21

A

Gene conversion or recombination

23
Q

Severe combined immunodeficiency X linked

A

il2rg

24
Q

Hpall

A

X inactivation randomness

25
Q

Cytogenetic analysis

A

Whether caused by deletion or upd

26
Q

atm

A

Caretaker

27
Q

Mismatch repair

A

Lynch, colon no polyps

28
Q

Nucleotide excision repair

A

Xeroderma

29
Q

pku

A

Ar, variable expression, multifactorial, PAH mutation