1 2 3 4 5 6 - Gaucher -Von Hippel Lindau (VHL) - Huntington (CAG) - APC (FAP) (5q-) Hemochromatosis - L-myc gene (involved in (3p26) - Achondroplasia (FGFR3 - Cri-Du-Chat (5p-) HFE gene (C282Y, small cell carcinoma) gene) H63D) (example of - Presenilin 2 (early alz.) APC = ”Colon” = 5 Linkage Disequilibrium) letters = chromosome 5! 7 8 9 10 11 12 - Cystic Fibrosis (CFTR) - C-myc gene (Burkitt's) - Abl (bcr-abl) (9q34.1) - ATM (11q22.3) - Williams syn. (7q-, elastin, - TSC1 (Hamartin) (9q34) - BCL-1 (cyclin D) 2+ “friendly elves ”, ↑ Ca ) - P16 tumor suppressor - Wilms’ tumor (deletion gene (Melanoma) of tumor suppressor - JAK2 (PV, ET, MMM) gene WT1) - Friedreich's Ataxia (GAA) - Niemann Pick (sphingomyelinase) - β Globin Chain (β-Thal) 13 14 15 16 17 18 - Rb Gene (retino, osteo) - Presenilin 1 (early alz) - Tay-Sachs - TSC2 (tuberin) - P53 (Bax→ bcl-2) - bcl-2 (apoptosis) - BRCA-2 (Hexosaminidase A) - PCKD1 (polycystin1) - NF1 (Von - Edwards Trisomy - Patau Trisomy - Marfan (FBN1) - α Globin Chain (α-Thal) Recklinghausen) - DCC (colon) - Wilson's disease (ATP7b) - Prader-Willi & Angelman - BRCA-1 - DPC4 (pancreatic) (imprinting) Angelina Jolie = 13 letters = Polycystic kidney = 16 Von Recklinghausen = chromosome 13! (Lets pretend letters = chromosome 16! 17 letters = chromosome she’s BRCA-2, not BRCA-1) Also ‘alpha globin chain’ 17! 19 20 21 22 23 - Familial Hyper - Down's Trisomy - NF2 (Merlin protein) Cholesterolemia (LDL - β-APP (very early alz.) - EWS (Ewing’s sarc.) receptor mutation) - SOD1 (altered in ALS) - DiGeorge syn. (11q-); - ApoE4 / 2 (Late alz. / alz) Velocardiofacial syn. (sporadic, not familial) Quantitative sexual Translocations X chromosome Y diseases - Menkes Syndrome (ATP7A copper Efflux Protein) - Klinefelter Philadelphia (Bcr-Abl over expression. P210KD Tyrosine 9:22 - Fragile X Syndrome (CGG on gene FMR-1) Syndrome XXY Kinase. CML→ better prognosis; ALL → worst prognosis) - Bruton's (BTK gene) Agammaglobulinemia (Barr Body) - Lesch-Nyhan (HPRT1) - Turner Syndrome 8:14 Burkitt's Lymphoma (C-myc gene over expression) - Wiskott Aldrich (WASP Protein) XO (Shox Gene) 11:14 Mantle Cell Lymphoma (Bcl-1 gene Aka Cyclin D) - SCID (IL-2 receptor mutation) 14:18 Follicular NHL (Bcl-2) - Duchenne MD (Dystrophin) - Alport’s (COL4A5) 15:17 AML M3 (Auer Rods, DIC) - Hemophilia A&B (F8&9) 11:22 Ewing's Sarcoma (“Patrick Ewing doubles your points”) - Fabry’s dz (telangiectasia & skin rashes, ↑ BUN) 12:21 Provides better prognosis in ALL - Hunter’s Syndrome (corneal clouding, pebbly skin) - G6PD deficiency - Ocular albinism - OTC deficiency (other urea cycle disease is AR) Taken and modified from www.Baronerocks.com - Hypophosphatemic rickets (X-linked dominant) .