title: Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.
abstract: Alagille syndrome (AGS, MIM 118450) is associated with human chromosome band 20p12. To study this region, we constructed a 3.7-Mb physical map using 36 YACs isolated from the CEPH YAC library with three sequence-tagged sites (STS): D20S503, D20S41, and D20S188. New STSs were obtained from 6 isolated YAC end-fragments. Eighteen markers were ordered on the contig as follows:20ptel-D20S177-D20S175-D20S509- D20S5/D20S503-D20S506-D20S162-D20S504- D20S505-D20S507-D20S188-(D20S6-D20S27- D20S189)-D20S186-D20S41-D20S61-D20S492- D20S508-20pcen. A restriction map with the enzymes AscI, MluI, NotI, SacII, and SfiI was generated, revealing seven putative CpG islands. We established a YAC contig that spans the AGS region and thus will be valuable for cloning candidate genes and searching for DNA polymorphisms segregating with this syndrome.
authors.affiliation: INSERM U347 affiliée au CNRS, Le Kremlin-Bicêtre, France.
authors.forename: N
authors.initials: N
authors.lastname: Pollet
authors.forename: S
authors.initials: S
authors.lastname: Dhorne-Pollet
authors.forename: J F
authors.initials: JF
authors.lastname: Deleuze
authors.forename: C
authors.initials: C
authors.lastname: Boccaccio
authors.forename: C
authors.initials: C
authors.lastname: Driancourt
authors.forename: N
authors.initials: N
authors.lastname: Raynaud
authors.forename: D
authors.initials: D
authors.lastname: Le Paslier
authors.forename: M
authors.initials: M
authors.lastname: Hadchouel
authors.forename: M
authors.initials: M
authors.lastname: Meunier-Rotival
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002890:Chromosomes, Human, Pair 20; D003001:Cloning, Molecular; D018899:CpG Islands; D017931:DNA Primers / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers; D005819:Genetic Markers