Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene

Boehnke, 1991, Statistical methods for multipoint radiation hybrid mapping, Am J Hum Genet, 49, 1174 Boll, 1991, Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactose, Am J Hum Genet, 48, 889 Chumakov, 1995, A YAC contig map of the human genome, Nature Suppl, 377, 175 Cox, 1990, Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution map of mammalian chromosomes, Science, 250, 245, 10.1126/science.2218528 Dib, 1996, A comprehensive genetic map of the human genome based on 5,264 microsatellites, Nature, 380, 152, 10.1038/380152a0 Harvey, 1993, Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21, Ann Hum Genet, 57, 179, 10.1111/j.1469-1809.1993.tb01593.x Holzel, 1959, Defective lactose absorption causing malnutrition in infancy, Lancet, i, 1126, 10.1016/S0140-6736(59)90710-X Ioannou, 1994, A new bacteriophage P1-derived vector for the propagation of large human DNA fragments, Nat Genet, 6, 84, 10.1038/ng0194-84 Kruse, 1988, The human lactase-phlorizin hydrolase gene is located on chromosome 2, FEBS Lett, 240, 123, 10.1016/0014-5793(88)80352-1 Lathrop, 1984, Strategies for multilocus linkage analysis in humans, Proc Natl Acad Sci USA, 81, 3443, 10.1073/pnas.81.11.3443 Mantei, 1988, Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme, EMBO J, 7, 2705, 10.1002/j.1460-2075.1988.tb03124.x Nevanlinna, 1972, The Finnish population structure, Hereditas, 71, 195, 10.1111/j.1601-5223.1972.tb01021.x Nikali, 1994, Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias, Pediatr Res, 36, 607, 10.1203/00006450-199411000-00012 Norio, 1973, Hereditary diseases in Finland, Ann Clin Res, 5, 109 Peltonen, 1997, Rare disease genes: lessons and challenges, Genome Res, 7, 765, 10.1101/gr.7.8.765 Poggi, 1991, Molecular analysis of the lactase gene in the congenital lactase deficiency, Am J Hum Genet Suppl, 49, 105 Sahi, 1972, Lactose malabsorption in Finnish children of school age, Acta Paediatr Scand, 61, 11, 10.1111/j.1651-2227.1972.tb15897.x Sambrook, 1989 Savilahti, 1983, Congenital lactase deficiency, Arch Dis Child, 58, 246, 10.1136/adc.58.4.246 Terwilliger, 1995, A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci, Am J Hum Genet, 56, 777 Terwilliger, 1996, Reply to Sham et al, Am J Hum Genet, 58, 1095 Vandenplas, 1984, Blot hybridization analysis of genomic DNA, J Med Genet, 21, 164, 10.1136/jmg.21.3.164 Varilo, 1996, Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus, Genome Res, 6, 870, 10.1101/gr.6.9.870 Varilo, 1996, The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population, Am J Hum Genet, 58, 506