title: Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.
abstract: The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.
authors.affiliation: Department of Cell Biology, University Nijmegen, The Netherlands.
authors.forename: G
authors.initials: G
authors.lastname: Jansen
authors.forename: P J
authors.initials: PJ
authors.lastname: de Jong
authors.forename: C
authors.initials: C
authors.lastname: Amemiya
authors.forename: C
authors.initials: C
authors.lastname: Aslanidis
authors.forename: D J
authors.initials: DJ
authors.lastname: Shaw
authors.forename: H G
authors.initials: HG
authors.lastname: Harley
authors.forename: J D
authors.initials: JD
authors.lastname: Brook
authors.forename: R
authors.initials: R
authors.lastname: Fenwick
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
authors.forename: C
authors.initials: C
authors.lastname: Tsilfidis
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D003360:Cosmids; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA