title: Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
abstract: We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.
authors.affiliation: Department of Medical Genetics, University of Manchester, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: Foy
authors.forename: V
authors.initials: V
authors.lastname: Newton
authors.forename: D
authors.initials: D
authors.lastname: Wellesley
authors.forename: R
authors.initials: R
authors.lastname: Harris
authors.forename: A P
authors.initials: AP
authors.lastname: Read
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000469:Alkaline Phosphatase / Q000235:genetics*; D000818:Animals; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D058851:GPI-Linked Proteins; D008040:Genetic Linkage; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008126:Lod Score; D008297:Male; D051379:Mice; D010375:Pedigree; D010920:Placenta / Q000201:enzymology; D012689:Sequence Homology, Nucleic Acid; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D058851:GPI-Linked Proteins; D007527:Isoenzymes; D000469:Alkaline Phosphatase; C019839:alkaline phosphatase, placental