top genetic diseases per DR.RUEBUSH

1) VARIABLE EXPRESSION-neurofibromatosis
2) INCOMPLETE PENETRANCE-hemochromatosis
3) DELAYED AGE OF ONSET-huntington
4) LOCUS HETEROGENEITY-osteogenesis imperfecta
5) PLEITROPY-marfan
6) ANTICIPATION-huntington again
7) IMPRINTING-prader willi or angelman

hope it helps...




TURCO'S TOP TEN

DR.TURCO TEACHES BIOCHEM FOR KAPLAN AND THATS ALL I'M GOING TO SAY ABOUT HIM...MOST HY ENZYMES FOR STEP1
1-HMG CoA REDUCTASE
2-G6PD
3-DHFR
4-Vit.K dep CARBOXYLASE
5-UDP-GLUCORONYL TRANSFERASE
6-HOMOCYSTEINE METHYLTRANSFERASE
7-METHYL MALONYL CoA MUTASE
8-HEXOSAMINIDASE A(all sphingolipidosis)
9-HGPRT
10-BRANCHED CHAIN KETOACID DEHYDORGENASE