title: Clone-contig and STS maps of the hereditary hemochromatosis region on human chromosome 6p21.3-p22.
abstract: YAC-based and bacterial-clone based STS-content maps were constructed that served as the framework physical maps for the positional cloning of a candidate gene for hereditary hemochromatosis. The YAC-based map comprises 43 YACs and 86 STS and spans approximately 8 Mb of DNA between the class I region of the major histocompatibility complex on human chromosome 6p21.3 and D6S276 in 6p22. Comparison with published maps revealed a hole in the MIT/Whitehead and CEPH YAC maps that includes the immediate region around the hemochromatosis gene itself. Approximately 3 Mb of DNA was covered by a bacterial clone contig that consists of 38 BACs, 45 PACs, 26 PI clones and one lambda phage. The bacterial clone-based STS map comprises 153 STSs. A contiguous block of 8 STSs could be amplified from both human chromosome 6 and 5. Further characterization of selected STSs and bacterial clones by radiation hybrid mapping and fluorescence in situ hybridization, respectively, revealed the presence of a multicopy DNA segment, more than one bacterial clone length in size, which is duplicated near the chromosome-6 centromere and part of which is present in multiple copies on chromosome 5. Possible implications of the incomplete public YAC-contig map and of the multicopy segment for physical mapping and linkage disequilibrium studies of the hemochromatosis candidate region are discussed.
authors.affiliation: Mercator Genetics, Inc., Menlo Park, California 94025, USA.
authors.forename: P
authors.initials: P
authors.lastname: Lauer
authors.forename: N C
authors.initials: NC
authors.lastname: Meyer
authors.forename: C E
authors.initials: CE
authors.lastname: Prass
authors.forename: S M
authors.initials: SM
authors.lastname: Starnes
authors.forename: R K
authors.initials: RK
authors.lastname: Wolff
authors.forename: A
authors.initials: A
authors.lastname: Gnirke
mesh_terms: D001419:Bacteria / Q000235:genetics; D002874:Chromosome Mapping / Q000379:methods*; D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6; D003001:Cloning, Molecular; D004251:DNA Transposable Elements; D015894:Genome, Human; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells / Q000528:radiation effects; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D016324:Sequence Tagged Sites
chemical_list: D004251:DNA Transposable Elements; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins