Linkage-disequilibrium mapping without genotyping (original) (raw)
Ewens, W.J., Spielman, R.S. & Harris, H. Estimation of genetic variation at the DNA level from restriction endonuclease data. Proc. Natl. Acad. Sci. USA6, 3748–3750 (1981). Article Google Scholar
Cooper, D.N., Smith, B.A., Cooke, H.J., Niemann, S. & Schmidte, J. An estimate of unique DNA sequence heterozygosity in the human genome. Hum. Genet.69, 201–205 (1985). ArticleCASPubMed Google Scholar
Nelson, S.F. et al. Genomic mismatch scanning : a new approach to genetic linkage mapping. Nature Genet.4, 11–18 (1993). ArticleCASPubMed Google Scholar
Mirzayans, F., Mear, A.J., Guo, S.-W., Pearce, W.G. & Walter, M.A. Identification of the human chromosomal region contain the iridogoniodysgenesis anomaly locus by genomic mismatch scanning. Am. J. Hum. Genet.61, 111–119 (1997). ArticleCASPubMedPubMed Central Google Scholar
Cheung, V.G. & Nelson, S.F. Genomic mismatch scanning identifies human genomic DNA shared identical by descent. Genomics47, 1–7 (1998). ArticleCASPubMed Google Scholar
McAllister, L., Penland, L. & Brown, P.O. Enrichment for loci identical-by-descent between pairs of mouse or human genomes by genomic mismatch scanning. Genomics47, 8–14 (1998). Article Google Scholar
Aguilar-Bryan, L. et al. Cloning of the β-cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science268, 423–425 (1995). ArticleCASPubMed Google Scholar
Thomas, P.M. et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science268, 426–428 (1995). ArticleCASPubMed Google Scholar
Nestorowicz, A. et al. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet.5, 1813–1822 (1996). ArticleCASPubMed Google Scholar
Au, K.G., Welsh, K. & Modrich, P. Initiation of methyl-directed mismatch repair. J. Biol. Chem.267, 12142–12148 (1992). CASPubMed Google Scholar
Casna, N., Novack, D., Hsu, M. & Ford, D. Genomic analysis II: isolation of high molecular weight heteroduplex DNA following differential methylase protection and formamide-PERT hybridization. Nucleic Acids Res.14, 7285–7303 (1986). ArticleCASPubMedPubMed Central Google Scholar
Su, S.S., Lanhue, R.S., Au, K.G. & Modrich, P. Mispair specificity of methyl-directed DNA mismatch correction in vitro. J. Biol. Chem.263, 6829–6835 (1988). CASPubMed Google Scholar
Smitha, J & Modrich, P. Mutation detection of MutH, MutL, and MutS mismatch repair proteins. Proc. Natl. Acad. Sci. USA93, 4374–4379 (1996). Article Google Scholar
Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science273, 1516–1517 (1996). ArticleCASPubMed Google Scholar
Glaser, B. et al. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. Hum. Mol. Genet.4, 879–886 (1995). ArticleCASPubMed Google Scholar
Stanley, C.A. & Baker, L. Hyperinsulinism in infants and children: Diagnosis and therapy. Advances Pediatr.23, 315–355 (1976). CAS Google Scholar
Glaser, B. et al. Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene. Nature Genet.7, 185–188 (1994). ArticleCASPubMed Google Scholar
Ayyagari, A. et al. Construction of a YAC contig encompassing the Usher Syndrome Type 1C and familial hyperinsulinism loci on chromosome 11p14 –15.1. Genome Res.6, 504–514 (1996). ArticleCASPubMed Google Scholar
Kerem, B.S. et al. Identification of the cystic fibrosis gene: Genetic analysis. Science245, 1073–1080 (1989). ArticleCASPubMed Google Scholar
Risch, N. et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their descent from a small founder population. Nature Genet.9, 152–159 (1995). ArticleCASPubMed Google Scholar
Hästbacka, J. et al. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet.2, 204–211 (1992). ArticlePubMed Google Scholar
Sedat, J.W., Kelly, R.B. & Sinsheimer, R.L. Fractionation of nucleic acid on benzoylated-naphthoylated DEAE cellulose. J. Mol. Biol.26, 537–540 (1967). ArticleCASPubMed Google Scholar
Henikoff, S. Unidirectional digestion with exonuclease III creates targeted breakpoints for DNA sequencing. Gene28, 351–360 (1984). ArticleCASPubMed Google Scholar
Lengauer, C., Green, E.D & Cremer, T. Fluorescence in situ hybridization of YAC clones after _Alu_-PCR amplification. Genomics13, 826–828 (1992). ArticleCASPubMed Google Scholar
Shalon, D., Smith, S.J. & Brown, P.O. A DNA microarray system for analyzing complex DNA samples using two-color fluorescent probe hybridization.Genome Res.6, 639–645 (1996). ArticleCASPubMed Google Scholar