Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

C Foy; V Newton; D Wellesley; R Harris; A P Read

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

Am J Hum Genet. 1990 Jun;46(6):1017-23.

Authors

C Foy¹, V Newton, D Wellesley, R Harris, A P Read

Affiliation

¹ Department of Medical Genetics, University of Manchester, United Kingdom.

PMID: 2339698
PMCID: PMC1683816

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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*

Substances

GPI-Linked Proteins
Isoenzymes
Alkaline Phosphatase
alkaline phosphatase, placental