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绘制人类X染色体缺失区域的DNA序列图谱,该缺失区域跨越杜氏肌营养不良症突变区域。

Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.

作者信息

Ingle C, Williamson R, de la Chapelle A, Herva R R, Haapala K, Bates G, Willard H F, Pearson P, Davies K E

出版信息

Am J Hum Genet. 1985 May;37(3):451-62.

Abstract

A somatic cell hybrid has been constructed and characterized using fibroblasts from a phenotypically normal woman who possesses an X chromosome with an interstitial deletion of the short arm. High-resolution banding indicates that the deleted segment is either Xp22.13-p11.4 or Xp22.11-p11.23. Southern blot hybridization to previously mapped DNA sequences confirms that the missing segment of the X chromosome is a deletion and not an interstitial translocation and supports the cytogenetic interpretation that the deletion extends proximal of Xp11.3 and therefore probably comprises Xp22.11-p11.23. Three further DNA sequences have been localized to the region of the deleted segment. The following order has been assigned to the seven probes used: Xpter-RC8-pXUT22-(OA1,C7,M2C)-L1.28-RD6 -Xcen.

摘要

利用来自一名表型正常女性的成纤维细胞构建并鉴定了一个体细胞杂种,该女性拥有一条X染色体,其短臂存在中间缺失。高分辨率显带表明缺失片段为Xp22.13-p11.4或Xp22.11-p11.23。与先前定位的DNA序列进行Southern印迹杂交证实,X染色体的缺失片段是一个缺失而非中间易位,并支持细胞遗传学解释,即缺失延伸至Xp11.3近端,因此可能包含Xp22.11-p11.23。另外三个DNA序列已定位到缺失片段区域。已确定所使用的七个探针的以下顺序:Xpter-RC8-pXUT22-(OA1,C7,M2C)-L1.28-RD6 -Xcen。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e939/1684591/3ba9a7579bc5/ajhg00158-0023-a.jpg

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