Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
PubMedPublished 1 June 1990
C Foy, Valerie Newton, Diana Wellesley, R Harris, Andrew Read
Citations112
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TL;DR
It is demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37 and in the mouse the Splotch locus maps to near the homologous position.
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.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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