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Flashcards in Re Deck (29)
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1

Beta thalassemia

Ar

2

Albinism

At

3

Alpha thalassemia

X lr

4

Juvenile Tay Sachs

Compound heterozygote

5

Achondroplasia

Allergic heterogeneity
Fgfr

6

Familial hypercholesteremia

Haploinsufficiency
Locus heterogeneity

7

Duchenne and Becker

Allelic heterogeneity

8

Alpha thalassemia stuff

Atrx deletions
Locus heterogeneity

9

Hyphosphatemia

Variable expression

10

Rhett syndrome

Sex limited

11

Who gets affected with cellular interference

Heterozygote X

12

Multiple sclerosis

Penetrance varies

13

Lhon

Locus h.
Phenotype h.

14

Under expression and over expression

Haplo. And trisomy

15

Dm2

No Anticipation cctg

16

Dm1 anticipation

Different bet men and women

17

Fried rich ataxia

gaa no anticipation ar

18

Spinal and bulbar muscular atrophy

Xlr CAG

19

Reifenstein

Partia
lof of steroid receptor

20

SBMA and AIS

Allelic h.

21

sbma

Er repeat

22

Defects in 21

Gene conversion or recombination

23

Severe combined immunodeficiency X linked

il2rg

24

Hpall

X inactivation randomness

25

Cytogenetic analysis

Whether caused by deletion or upd

26

atm

Caretaker

27

Mismatch repair

Lynch, colon no polyps

28

Nucleotide excision repair

Xeroderma

29

pku

Ar, variable expression, multifactorial, PAH mutation