Đặc điểm của một biến dị nối (recombinant) xác định vị trí gen gây bệnh hemochromatosis di truyền ở telomeric HLA-F

Adams PC (1992) Intrafamilial variation in hereditary hemochromatosis. Dig. Dis Sci 37:361–363 Bassett ML, Halliday JW, Powell LW (1986) Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology 6:24–29 Bodmer JG, Marsh SG, Parham P, Erlich HA, Bodmer AE, Dupont B, Mach B, et al (1992) Nomenclature for factors of the HLA system 1992. Tissue Antigens 39:161 Bothwell TH, Charlton RW, Motulsky AG (1989) Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1433–1462 Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH (1982) Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 78:196–207 Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355–1362 El Kalhoun A, Chauvel B, Mauvieux V, Dorval I, Jouanolle AM, Gicquel I, Le Gall, JY, et al (1993) Localization of seven new genes around the HLA-A locus. Hum Mol Genet 2:55–60 Gasparini P, et al (1993) Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. Hum Mol Genet 2:571–576 Gayapay G, Moressette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993–94 Genethon human genetic linkage map. Nat Genet 7:246–249 Gill PA, Jeffreys A, Werrett D (1985) Forensic application of DNA fingerprints. Nature 318:577–579 Gruen JR, Goei VL, Summers KM, Capossela A, Powell L, Halliday J, Zoghbi H, Shukla H, Weissman SM (1992) Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis (HFE). Genomics 14:232–240 Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW (1993) Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 53:347–352 Jazwinska EC, Halliday JW, Powell LW (1994) Where does the gene for hemochromatosis lie in relation to HLA-A? Hepatology 19:1050–1056 Litt M, Luty JA (1990) Dinucleotide repeat polymorphism at the D6S89 locus. Nucleic Acids Res 18:4301 McKusick VA, Francomana CA, Antonarakis SE (eds) (1992) Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes, 10th edn. Johns Hopkins University Press, Baltimore, pp 1425–1439 McLaren GD, Nathanson MH, Jacobs A, Trevett D, Thomson W (1991) Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis. J Lab Clin Med 117:390–401 Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215 Polymeropoulos MH, Rath DS, Xiao H, Merril CR (1991) Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nuleic Acids Res 19:4036 Powell LW, et al (1990) Expression of hemochromatosis in homozygous subjects. Gastroenterology 98:1625–1632 Raha-Chowdhury, et al (1994) Trinucleotide repeat microsatellite in the 5′ untranslated region of HLA-F. Hum Mol Genet 3:2084 Saddi R, Feingold J (1974) Idiopathic hemochromatosis: an autosomal recessive disease. Clin Genet 5:234–241 Schmidt CM, Orr HT (1991) A physical linkage map of HLA-A, -G, -7. 5p, and -F. Hum Immunol 31:180–185 Simon M, Bourel M, Fauchet R, Genetet B (1976) Idiopathic hemochromatosis: demonstration of recessive inheritance and early detection by family HLA typing. N Engl J Med 297:1017–1021 Smith LH (1990) Overview of hemochromatosis. West J Med 153:296–308 Trent JM, Ziegler A (1993) Report of the first international workshop on human chromosome 6 mapping. Cytogenet Cell Genet 62:66–75 Weber JL, Kwitek AE, May PE, Zoghbi HY (1991) Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res 19:968 Worwood M, Raha-Chowdhury R, Dorak MT, Darke C, Bowen DJ, Burnett AK (1994) Alleles at D6S265 and D6S105 define a hemochromatosis-specific genotype. Br J Haemotol 86:863–866 Yaouanq J, Perichon M, Chorney M, Pontarotti P, LeTrent A, Elkalhoun A, Mauvieux V, Blayau M, Jouanolle A, Chauvel B, Moirand R, Mouel O, LeGall J, Feingold J, David V (1994) Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 54:252–263