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
This is the most frequent Mendelian disorder
Familial hypercholesterolemia
Impaired Autphagy
Secondary accumulation
Cherry red spot on fundoscopy
Tay Sach Disease
Zebra bodies in EM
Neimann pick disease
Crumpled paper appeared
Gaucher’s disease
MPS
Hurler syndrome me
L-iduronidase def
X linked MPS
Hunter syndrome
Has zebra bodies and balloon cells
MPS
Hepatic form of glycogen storage disease
Von Gierke
Myopathic form of glycogen storage disease
Mcardle
Miscellaneous form
Pompe’s disease
Trisnomy 18
Sdward’s syndrome
Trisomy 13
Patau syndrome
One functional X
Barr body
Lyon hypothesis
Paternally derived chromosome 15
Prader Willi
Maternally derived
Angelman
Happy puppets
