title: Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.
abstract: A bacterial artificial chromosome (BAC) and P1 contig of the proximal part of chromosome 9p centromeric of markers D9S165 and D9S304 is described. This 1.1- to 1.7-Mb portion of chromosome 9p13 was previously not physically mapped. It contains 24 genes or expressed sequence tags, five polymorphic AC repeats, and three new polymorphic single-strand conformation polymorphism variants. Several of the genes thus mapped are excellent candidates for disease-causing genes whose loci have previously been assigned to proximal 9p. Our primary interest is in the cartilage-hair hypoplasia gene (CHH) that resides within the contig between markers D9S163 and D9S1791 based on linkage evidence.
authors.affiliation: Department of Medical Genetics, P.O. Box 21, University of Helsinki, Helsinki, FIN-00 014, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Vakkilainen
authors.forename: P
authors.initials: P
authors.lastname: Kivipensas
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: A
authors.initials: A
authors.lastname: de le Chapelle
authors.forename: M
authors.initials: M
authors.lastname: Ridanpää
mesh_terms: D001483:Base Sequence; D002357:Cartilage Diseases / Q000235:genetics; D002874:Chromosome Mapping; D002876:Chromosomes, Bacterial; D002899:Chromosomes, Human, Pair 9; D020451:Contig Mapping; D020224:Expressed Sequence Tags; D005819:Genetic Markers; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005819:Genetic Markers