Table 7.
Selected Readings: Inherited Disorders
| Andrews LB, Fullarton JE, Holtzman NA, Motulsky A (Eds): Assessing Genetic Risks. Washington, DC National Academy Press, 1994 |
| ASHG/ACMG Report: Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995, 57:1233–1241 |
| ASHG Statement: Professional Disclosure of Familial Genetic Information. Am J Hum Genet 1998, 62:474–483 |
| Beutler E, Gelbar T, Kuhl W, Zimran A, West C: Mutations in Jewish patients with Gaucher’s disease. Blood 1992, 79:1662–1666 |
| Bothwell TH, MacPhail AP: Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects. Semin Hematol 1998, 35:55–71 |
| Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR: The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 1997, 60:1202–1210 |
| Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992, 68:799–808 |
| Cai SP, Chang CA, Zhang J-Z, Saiki RK, Erlich HA, Kan YW: Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes. Blood 1989, 73:372–374 |
| Clement K, Vaisse C, Lahiou N, Cabrol S, Pelloux V, Cassuto D, Gourmeien M, Dina C, Chambaz J, Lacort J-M, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B: A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998, 392:398–401 |
| Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L, and the members of the DOE and NIH planning groups: New goals for the human genome project: 1998–2003. Science 1998, 282:682–689 |
| Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Small GW, Roses AD, Haines JL, Pericak-Vance MA: Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 1993, 261:921–923 |
| Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, Locke PA, Conneally PM, Schmader KE, Small GW, Roses AD, Haines JA, Pericak-Vance MA: Protective effect of apolipoprotein E type 2 alleles for late onset Alzheimer disease. Nature Genet 1994, 7:180–184 |
| Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tomé P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M-T, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJR, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Fox S, Gelling S, Green L, Harrison P, Hocking R, Holloway E, Hunt S, Keil S, Lijnzaad P, Louis-Dit-Sully C, Ma J, Mendis A, Miller J, Morissette J, Muselet D, Nusbaum HC, Peck A, Rozen S, Simon D, Slonim DK, Staples R, Stein LD, Stewart EA, Suchard MA, Thangarajah T, Vega-Czarny N, Webber C, Wu X, Hudson J, Auffray C, Nomura N, Sikela JM, Polymeropoulos MH, James MR, Lander ES, Hudson TJ, Myers RM, Cox DR, Weissenbach J, Boguski MS, Bentley DR: A physical map of 30,000 human genes. Science 1998, 282:744–746 |
| Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 1996, 13:399–408 |
| Fu Y, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047–1058 |
| Gelbart WM: Databases in genomic research. Science 1998, 282:659–661 |
| The Huntington’s Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s Disease chromosomes. Cell 1993, 72:971–983 |
| Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC: Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073–80. |
| Kiechle FL, Kaul KL, Farkas DH: Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology. Arch Pathol Lab Med 1996, 120:597–603 |
| La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77–79 |
| Miller RG, Hoffman EP: Molecular diagnosis and modern management of Duchenne muscular dystrophy. Pediat Neurogenet 1994, 12:699–725 |
| Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eismann JA: Prediction of bone density from vitamin D receptor alleles. Nature 1994, 367:284–287 |
| Multiple contributors: J Am Med Assoc 1997, 278:1209–1294 (Multiple articles addressing genetics and molecular diagnosis of Alzheimer disease, breast carcinoma, prostate cancer, multiple sclerosis, retinoblastoma, beta thalassemia, colorectal cancer and other disorders) |
| Poort RS, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996, 88:3698–3703 |
| Press RD, Flora K, Gross C, Rabkin JM, Corless CL: Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis. Am J Clin Pathol 1998, 109:577–584 |
| Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielinski J, Lok S, Plavsik N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066–1073 |
| Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996, 273:1516–1517 |
| Risch N: Haemochromatosis, HFE and genetic complexity. Nature Genet 1997, 17:375–376 |
| Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS: Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059–1065 |
| Sutcharitchan P, Embury SH: Advances in molecular diagnosis of inherited hemoglobin disorders. Curr Opin Hematol 1996, 3:131–138 |
| Warren ST, Nelson DL: Advances in diagnosis of fragile X syndrome. J Am Med Assoc 1994, 271:536–542 |
| Wivel NA, Walters L: Germ-line gene modification and disease prevention: some medical and ethical perspectives. Science 1993, 262:533–538 |