Genetic Disorder Flashcards
Glycine is coded for Valine will cause what kind of sickness
sickle cell anemia
Example of non coding sequences mutation
Thalassemia
fragile x syndrome has what gene
FMNR 1
Example of variable expressivity
Neurofibromatosis
An example of gain of function mutation
Huntington disease
Polycystic kidney disease
Autosomal dominant
Complete penetrance is common
Autosomal recessive
Enzyme defects accumulation of subtrates example
Lysosomal storage disease
Enzyme defect in metabolic block with decreased end product
Lesch Nyhan
Absence of a regulatory component
Alpha 1 antitrypsin
What anti malarial drug causes hemolytic anemia
Primaquine
Marfan syndrome
Fibrilin 1
CVS lesion in Marfan Syndrome
Mitral prolapse
Dilation of the ascending aorta due to the cystic medionecrosis
EDS has what kind of defect
Collagen
Autosomal recessive defect of EDS
Kyphosis
Dermatosprarxaxis
