title: Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
abstract: The major site for mutations leading to autosomal dominant polycystic kidney disease (ADPKD) is at the PKD1 locus, previously mapped to 16p13. Three additional probes have now been mapped within an existing array of genetic markers flanking this locus. One of these, CMM65b (D16S84), shows no recombination with PKD1 in 201 informative meioses. The others, Fr3-42 (D16S21) and EKMDA2 (D16S83), are shown to be the closest telomeric flanking markers. Somatic cell hybrids containing derivative chromosome 16s were used to construct a physical map of the region. Cosmid overlap cloning of the D16S84 region allowed a t(16;1) translocation breakpoint to be mapped at the molecular level, orientating the extended D16S84 locus with respect to the chromosome. The new markers and physical map described here provide an improved framework for attempts to clone the PKD1 region and to identify polycystic kidney disease mutations.
authors.affiliation: Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510.
authors.forename: G G
authors.initials: GG
authors.lastname: Germino
authors.forename: N J
authors.initials: NJ
authors.lastname: Barton
authors.forename: J
authors.initials: J
authors.lastname: Lamb
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
authors.forename: P
authors.initials: P
authors.lastname: Harris
authors.forename: G H
authors.initials: GH
authors.lastname: Xiao
authors.forename: G
authors.initials: G
authors.lastname: Scherer
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: S T
authors.initials: ST
authors.lastname: Reeders
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D005060:Europe / Q000208:ethnology; D005799:Genes, Dominant; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells / Q000166:cytology; D008540:Meiosis; D051379:Mice; D009523:Newfoundland and Labrador; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D011995:Recombination, Genetic; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D005914:Globins