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对两名低汗性外胚层发育不良(EDA)女性患者中两个X/A易位的Xq13.1断点进行定位。

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

作者信息

Plougastel B, Couillin P, Blanquet V, Le Guern E, Bakker E, Turleau C, De Grouchy J, Créau-Goldberg N

机构信息

U173 INSERM, Hôpital Necker Enfants Malades, Paris, France.

出版信息

Genomics. 1992 Oct;14(2):523-5. doi: 10.1016/s0888-7543(05)80259-9.

Abstract

Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

摘要

细胞杂种是从一名患有少汗性外胚层发育不良(EDA)的女性患者中鉴定出的t(X;12)获得的。这种重排与先前观察到的一名EDA患者中发现的t(X;9)具有相同的Xq13.1细胞遗传学断点。在分子水平上对这两种重排与九个探针进行了比较分析。这些探针可以定义三个子区域:三个是近端的,两个是远端的,四个在两个断点之间。最后这些探针应该对克隆该基因有用。

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