Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
basic_science · Level V
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- Record sourced from PubMed, PMID 2339698.
- Also identified by PMC identifier 1683816.
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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.
Medical subject headings
- Abnormalities, Multiple
- Alkaline Phosphatase
- Chromosomes, Human, Pair 2
- Genetic Linkage
- Isoenzymes
- Waardenburg Syndrome