title: A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder.
abstract: Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component and a population lifetime risk of 1%. Our previous work identified a region of human chromosome 4p that showed significant linkage to BPAD in a large pedigree. Here, we report the construction of an accurate, high-resolution physical map of 6.9 Mb of human chromosome 4p15.3-p16.1, which includes an 11-cM (5.8 Mb) critical region for BPAD. The map consists of 460 PAC and BAC clones ordered by a combination of STS content analysis and restriction fragment fingerprinting, with a single approximately 300-kb gap remaining. A total of 289 new and existing markers from a wide range of sources have been localized on the contig, giving an average marker resolution of 1 marker/23 kb. The STSs include 57 ESTs, 9 of which represent known genes. This contig is an essential preliminary to the identification of candidate genes that predispose to bipolar affective disorder, to the completion of the sequence of the region, and to the development of a high-density SNP map.
authors.affiliation: Medical Genetics Section, MRC Human Genetics Unit, University of Edinburgh, Molecular Medicine Centre, Crewe Road, Edinburgh, EH4 2XU, United Kingdom. Kathy.Evans@ed.ac.uk
authors.forename: K L
authors.initials: KL
authors.lastname: Evans
authors.forename: S
authors.initials: S
authors.lastname: Le Hellard
authors.forename: S W
authors.initials: SW
authors.lastname: Morris
authors.forename: D
authors.initials: D
authors.lastname: Lawson
authors.forename: C
authors.initials: C
authors.lastname: Whitton
authors.forename: C A
authors.initials: CA
authors.lastname: Semple
authors.forename: J A
authors.initials: JA
authors.lastname: Fantes
authors.forename: H S
authors.initials: HS
authors.lastname: Torrance
authors.forename: M P
authors.initials: MP
authors.lastname: Malloy
authors.forename: J C
authors.initials: JC
authors.lastname: Maule
authors.forename: S J
authors.initials: SJ
authors.lastname: Humphray
authors.forename: M T
authors.initials: MT
authors.lastname: Ross
authors.forename: D R
authors.initials: DR
authors.lastname: Bentley
authors.forename: W J
authors.initials: WJ
authors.lastname: Muir
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: D J
authors.initials: DJ
authors.lastname: Porteous
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial; D002894:Chromosomes, Human, Pair 4; D020451:Contig Mapping; D016172:DNA Fingerprinting; D017931:DNA Primers / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism; D020224:Expressed Sequence Tags; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008957:Models, Genetic; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism; D021101:Radiation Hybrid Mapping; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D012333:RNA, Messenger; D004262:DNA Restriction Enzymes