Phân tích liên kết của gen thụ thể insulin ở người và bệnh tiểu đường khởi phát tuổi trưởng thành

Rotter JI, Rimoin DL (1981) The genetics of the glucose intolerance disorders. Am J Med 70: 116–126 Tattersall RB, Fajans SS (1975) A difference between the inheritance of classic juvenile-onset and maturity onset type of diabetes of young people. Diabetes 24: 44–53 Fajans SS (1982) Heterogeneity between various families with non-insulin dependent diabetes of the MODY type. In: Köbberling J, Tattersall R (eds) The genetics of diabetes mellitus. Academic Press, London New York, pp 251–260 Barbosa J, Ramsay R, Goetz FC (1978) Plasma glucose, insulin, glucagon, and growth hormone in kindreds with maturity-onset type of hyperglycaemia in young people. Ann Int Med 88: 595–601 Fajans SS (1985) Heterogeneity within Type II and MODY diabetes. In: Vranic M (ed) Comparison of Type I and Type II Diabetes. Advances in experimental medicine and biology. Plenum, New York, pp 65–87 Turner RC, McCarthy ST, Holman RR, Harris E (1976) Beta-cell function improved by supplementing basal insulin secretion in mild diabetes. Br Med J 1: 1252–1254 Grunberger G, Taylor SI, Dons RF, Gordon P (1983) Insulin receptors in normal and disease states. J Clin Endocrinol Metab 12: 191–219 Garvey WT, Olefsky JM, Griffin J, Hamman RF, Kolterman OG (1985) The effect of insulin treatment on insulin secretion and insulin action in type II diabetes mellitus. Diabetes 34: 222–232 Fajans SS (1986) Heterogeneity of insulin secretion in Type II diabetes. In: Defronzo RA (ed) Diabetes/metabolism reviews, Vol 2, Nos 3 and 4. John Wiley, New York, pp 347–361 Platz P, Jakobsen BK, Svejgaard A, Thomsen BS, Jensen KB, Henningsen K, Lamm LU (1982) No evidence for linkage between HLA and maturity onset type of diabetes in young people. Diabetologia 23: 16–18 Barbosa J (1983) No linkage between HLA and maturity onset hyperglycaemia in the young. Diabetologia 24: 137–140 Nelson PG, Pyke DA (1976) Genetic diabetes not linked to the HLA locus. Br Med J 1: 196–197 Tattersall RB (1982) The present status of maturity onset type of diabetes of young people (MODY). In: Köbberling J, Tattersall R (eds) The genetics of diabetes mellitus. Academic Press, London New York, pp 260–270 Bell JI, Wainscoat JS, Old JM, Chlouverakis C, Keen H, Turner RC, Weatherall DJ (1983) Maturity onset diabetes of the young is not linked to the insulin gene. Br Med J 286: 590–592 Owerbach D, Thomsen B, Johansen K, Lamm LU, Nerup J (1983) DNA insertion sequences near the insulin gene are not associated with maturity-onset diabetes of young people. Diabetologia 25: 18–20 Andreone T, Fajans SS, Rotwein P, Skolnick M, Permutt MA (1985) Insulin gene analysis in a family with maturity onset diabetes of the young. Diabetes 34: 108–114 Johnston C, Owerbach D, Leslie RDG, Pyke DA, Nerup J (1984) Mason-type diabetes and DNA insertion polymorphism. Lancet 1: 280 Ullrich A, Bell JR, Chen EY, Herrera R, Petruzzelli LM, Dull TJ, Gray A, Coussens L, Liao YC, Tsubokawa M, Mason A, Seeburg PH, Grunfeld C, Rosen OM, Ramachandran J (1985) Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 313: 756–761 Ebina Y, Ellis L, Jarnagin K, Edery M, Laszlo G, Clauser E, Ou J, Masiarz F, Kan YW, Goldfine ID, Roth RA, Rutter WJ (1985) The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell 40: 747–758 Elbein SC, Corsetti L, Ullrich A, Permutt MA (1986) Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis. Proc Natl Acad Sci USA 83: 5223–5227 Elbein SC, Corsetti L, Permutt MA (1985) New polymorphisms at the insulin locus increase its usefulness as a genetic marker. Diabetes 34: 1139–1144 Johansen K, Gregersen G (1977) A family with dominantly inherited mild juvenile diabetes. Acta Med Scand 201: 567–570 Fajans SS, Cloutier MC, Crowther RL (1978) Clinical and etiologic heterogeneity of idiopathic diabetes mellitus. Diabetes 27: 1112–1114 Bell KI, Karam JH, Rutter WJ (1981) Polymorphic DNA region adjacent to the 5'-end of the human insulin gene. Proc Natl Acad Sci USA 78: 5759–5763 Rigby PWJ. Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase 1. J Mol Biol 113: 237–251 Capon DJ, Chen EY, Levinson AD, Seeburg PH, Goeddel DV (1983) Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue. Nature 302: 33–37 White R, Leppert M, Bishop DT, Barker D, Berkowitz J, Brown C, Callahan P, Holm T, Jerominski L (1985) Construction of linkage maps with DNA markers for human chromosomes. Nature 313: 101–105 Lathrop GM, Lalouel JM (1984) Easy calculation of lod scores and genetic risks on small computers. Am J Hum Genet 36: 460–465 Ott J (1985) Analysis of human genetic linkage, John Hopkins Univ Press, Baltimore, pp 162–163 Ott J (1978) A simple scheme for the analysis of HLA linkages in pedigrees. Ann Hum Genet 42: 225–257 Taylor S (1985) Receptor defects in patients with extreme insulin resistance. Diabetes/Metabol Rev 1: 171–202 Hedo JA, Moncada VY, Taylor SI (1985) Insulin receptor biosynthesis in cultured lymphocytes from insulin resistant patients. J Clin Invest 76: 2355–2361 White R, Woodward S, Leppert M, O'Connell P, Hoff M, Herbst J, Lalouel JM, Dean M, Vande Woude G (1985) A closely linked genetic marker for cystic fibrosis. Nature 318: 382–384 Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Skaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234–238