Re Flashcards by Laura Brickman

Q

Beta thalassemia

A

Ar

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Q

Albinism

A

At

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Q

Alpha thalassemia

A

X lr

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Q

Juvenile Tay Sachs

A

Compound heterozygote

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Q

Achondroplasia

A

Allergic heterogeneity

Fgfr

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Q

Familial hypercholesteremia

A

Haploinsufficiency

Locus heterogeneity

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Q

Duchenne and Becker

A

Allelic heterogeneity

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Q

Alpha thalassemia stuff

A

Atrx deletions

Locus heterogeneity

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Q

Hyphosphatemia

A

Variable expression

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Q

Rhett syndrome

A

Sex limited

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Q

Who gets affected with cellular interference

A

Heterozygote X

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Q

Multiple sclerosis

A

Penetrance varies

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Q

Lhon

A

Locus h.

Phenotype h.

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Q

Under expression and over expression

A

Haplo. And trisomy

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Q

Dm2

A

No Anticipation cctg

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Q

Dm1 anticipation

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A

Different bet men and women

Q

Fried rich ataxia

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A

gaa no anticipation ar

Q

Spinal and bulbar muscular atrophy

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A

Xlr CAG

Q

Reifenstein

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A

Partia

lof of steroid receptor

Q

SBMA and AIS

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A

Allelic h.

Q

sbma

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A

Er repeat

Q

Defects in 21

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A

Gene conversion or recombination

Q

Severe combined immunodeficiency X linked

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A

il2rg

Q

Hpall

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A

X inactivation randomness

Cytogenetic analysis

Whether caused by deletion or upd

atm

Caretaker

Mismatch repair

Lynch, colon no polyps

Nucleotide excision repair

Xeroderma

pku

Ar, variable expression, multifactorial, PAH mutation