特雷彻·柯林斯综合征的基因定位于5号染色体长臂。
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
作者信息
Dixon M J, Read A P, Donnai D, Colley A, Dixon J, Williamson R
机构信息
Department of Cell and Structural Biology, University of Manchester, England.
出版信息
Am J Hum Genet. 1991 Jul;49(1):17-22.
Abstract
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.
摘要
特雷彻·柯林斯综合征（TCS）是一种常染色体显性颅面发育障碍疾病，其特征包括传导性听力损失和腭裂。我们研究了12个有多个患病个体的无关TCS家族，以确定其与5号染色体上的5个标记的连锁关系。有强有力的证据表明与其中3个标记存在连锁关系。多点连锁分析将导致TCS的突变定位在糖皮质激素受体基因和匿名标记D5S22之间的区间内，最大多点对数优势分数为9.1。
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