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	C Foy, V Newton, D Wellesley, R Harris, A P Read
Journal	American journal of human genetics (Am J Hum Genet) Vol. 46 Issue 6 Pg. 1017-23 (Jun 1990) ISSN: 0002-9297 [Print] United States
PMID	2339698 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	GPI-Linked Proteins Isoenzymes Alkaline Phosphatase alkaline phosphatase, placental
Topics	Abnormalities, Multiple (genetics) Alkaline Phosphatase (genetics) Animals Chromosome Mapping Chromosomes, Human, Pair 2 Female GPI-Linked Proteins Genetic Linkage Humans Isoenzymes (genetics) Lod Score Male Mice Pedigree Placenta (enzymology) Sequence Homology, Nucleic Acid Waardenburg Syndrome (genetics)

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