Genetics Pedigree 11-29-16 Flashcards
What is required for the autosomal recessive disease to be expressed?
Two mutant alleles
Affected persons of an autosomal recessive disorder and parents
They are usually born to unaffected parents
What sex is effected in autosomal recessive disease?
Either
Both parents of a child with autosomal recessive disorder are _____________
Obligate carriers
Can male to male transmission occur in autosomal recessive disorders?
Yes
What do autosomal recessive disorders usually involve?
Catalytic proteins
What are some autosomal recessive disorders?
- sickle cell anemia
- cystic fibrosis
- PKU
- Tay-Sachs
What is unique about autosomal recessive disorders if you have only one allele?
You wont show condition, but usually have an advantage to things such as protection against malaria
Autosomal recessive risk
Recurrent
IX-linked dominant
No high yield diseases. Very rare
What sex does X linked recessive affect?
Usually only males
- usually unaffected patients
- no male to male transmission
What are some X linked recessive disorders
- Duchenne (DMD) and Becker (DMD) muscular dystrophy
- Lesch-Nyah’s Syndrome
- glucose 6 phosphate dehydrogenase deficiency
- hemophilia A and B
What is the only organelle that contains its own DNA?
Mitochondria
Where are mitochondrial DNA inherited exclusively from>
Mother
What sex can be affected by mitochondrial inheritance?
Both
