Shared Flashcard Set

Details

C1-43 Non-traditional Inheritance
More Genetics Stuff
4
Biochemistry
Professional
09/22/2010
Click here to study/print these flashcards.

Create your own flash cards! Sign up here.

Additional Biochemistry Flashcards

 

 

Cards

Term



Clinical expression for all mtDNA

mutations depends on three factors:

 Definition

-The relative abundance of mutant mtDNAs (heteroplasmy)

 

-Tissue distribution of mutant mtDNAs


-Threshold effect:  Mutational load and vulnerability of each tissue to impaired oxidative metabolism 
Term



Tissues most dependent on OXPHOS function 

 Definition

•CNS
•Vision
•Hearing
•Muscle
Term



Leber Hereditary Optic Neuropathy (LHON)

 Definition

Mutations tend to be homoplasmic

–In one study, individuals with a G11778A mutation load of less than 75% in their leukocytes were unaffected

-Painless subacute onset of visual loss – peak onset at 20-25 years


-95% of families have missense mutations at three basepairs: 11778, 3460, and 14484.
Term

 

 

 

Uniparental Disomy

 Definition

UPD - disomic cell line containing 2 chromosomes of a given kind, inherited from one parent


–Isodisomy - same chromosome (homolog) present in duplicate


–Heterodisomy - both homologs from one parent are present
Supporting users have an ad free experience!