title: A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21.
abstract: The Down syndrome (DS) region on chromosome 21, which is responsible for the main features of DS such as characteristic facial features, a congenital heart defect, and mental retardation, has been defined by molecular analysis of DS patients with partial trisomy 21. The 2. 5-Mb region around the marker D21S55 between D21S17 and ERG in 21q22 is thought to be important, although contributions of other regions cannot be excluded. In this region, we focused on a 1.6-Mb region between a NotI site, LA68 (D21S396, which is mapped distal to D21S17) and ERG, because analysis of a Japanese DS family with partial trisomy 21 revealed that the proximal border of its triplicated region was distal to LA68. We constructed P1 contigs with 46 P1 clones covering more than 95% of the 1.6-Mb region. A high-resolution restriction map using BamHI was also constructed for more detailed analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including gene isolation and sequencing of the DS region.
authors.affiliation: Radiobiology Division, National Cancer Center Research Institute, Chuo-ku, Tokyo, 104, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ohira
authors.forename: H
authors.initials: H
authors.lastname: Ichikawa
authors.forename: E
authors.initials: E
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Iwaki
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: F
authors.initials: F
authors.lastname: Saito-Ohara
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
authors.forename: I
authors.initials: I
authors.lastname: Chumakov
authors.forename: H
authors.initials: H
authors.lastname: Tanahashi
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping / Q000379:methods*; D018244:Chromosomes, Artificial, Yeast; D002891:Chromosomes, Human, Pair 21; D002894:Chromosomes, Human, Pair 4; D017931:DNA Primers / Q000737:chemistry; D004314:Down Syndrome / Q000235:genetics*; D005819:Genetic Markers; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D016324:Sequence Tagged Sites; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers; D005819:Genetic Markers