I型瓦登伯革氏综合征基因座定位于人类染色体2q37以及与斑点鼠的可能同源性。
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
作者信息
Foy C, Newton V, Wellesley D, Harris R, Read A P
机构信息
Department of Medical Genetics, University of Manchester, United Kingdom.
出版信息
Am J Hum Genet. 1990 Jun;46(6):1017-23.
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.
摘要
我们已经证明，常染色体显性I型瓦登伯革氏综合征（Waardenburg syndrome type I）的基因座与位于2q37染色体上的胎盘碱性磷酸酶基因座紧密连锁。在五个家族中，重组率为0.023时，最大对数优势分数（lod score）为4.76。在小鼠中，斑点（Splotch）基因座定位于同源位置附近。斑点小鼠有白色斑点和听力缺陷，这表明斑点基因可能是I型瓦登伯革氏综合征的小鼠同源基因。
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