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DIT genetics

QuestionAnswer
what is the probability that a femal heterozygous for an X linked disease will pass it on to her son? 50%
what is the probability that a female heterozygous for an X liked disease that mates with a normal male will have a carrier daughter? 50%
what is the probability that a female carrier of an x linked disease will have a child with that disease assuming she mates with a normal male? 25%
Both males and female are affected with a disease in every generation. autosomal dominant
a/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm Marfan's
a/w mitral valve prolapse, liver disease, berry aneurysm ADPKD
hemangiomas of retina/cerebellum/medulla VHL
increased MCHC, hemolytic anemia hereditary spherocytosis
cafe au lait spots and soft tissue growths NF I
macroorchidism and autism fragile X
endocardial cushion defects are common Down's
recurrent pulmonary infections, steatorrhea CF
multiple fractures, easily confused with child abuse osteogenesis imperfecta
a/w alzheimer's after age 35 Down's
prone to bilateral acoustic schwannomas NF II
excess fibroo fatty tissue deposits amongst muscle muscular dystrophy
used to dx CF Cl sweat test
defective gene in CF? CFTR
southern blot DNA: DNA
northern blot RNA: DNA
western blot protein: Ab
accumulation of GM2ganglioside tay sachs
a/w renal failure fabry
accumulation of dermatin sulfate Hurler, Hunter, Scheie
deficiency in hexosaminidase tay sachs
2 pts have the same mutation but different phenotypic expressions. One got the mutation from the dad, the other from the mom. What's this called? imprinting
Created by: kayjames