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一个与X连锁耳聋相关的家族,显示与X染色体近端Xq区域存在连锁关系。

A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.

作者信息

Robinson D, Lamont M, Curtis G, Shields D C, Phelps P

机构信息

Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.

出版信息

Hum Genet. 1992 Nov;90(3):316-8. doi: 10.1007/BF00220090.

Abstract

Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness.

摘要

对一个患有严重先天性感音神经性耳聋且内耳存在结构异常的家族进行了连锁分析。重组情况表明,该家族中导致耳聋的基因位于DXS255(Xp11.22)和DXS94(Xq22)位点之间。发现与位于Xq12的DXS159(cpX289)位点紧密连锁,对数优势分数为3.155,且无重组现象。这一位置与其他X连锁性耳聋的连锁研究结果一致。

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