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通过与一组DNA多态性(DXS43和DXS9)连锁,将贝克尔肌营养不良症明确定位在Xp。

Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9).

作者信息

Fadda S, Mochi M, Roncuzzi L, Sangiorgi S, Sbarra D, Zatz M, Romeo G

出版信息

Hum Genet. 1985;71(1):33-6. doi: 10.1007/BF00295664.

Abstract

A study of linkage between Becker muscular dystrophy and four X chromosome-specific DNA polymorphisms in 17 kindreds has indicated that this gene is located in Xp, as already anticipated by single pedigree analysis. In particular the DXS43 and DXS9 loci, identified by probes D2 and RC8, respectively, are closely linked to each other and are both located at approximately 15 cM from the Becker locus. These linkage data, together with the previously established linkage between Becker and the DXS7 locus identified by probe L 1.28, indicate that the Becker gene is located in the same region where Duchenne has been mapped and also yield information about relative genetic distances among different DNA polymorphisms of the X chromosome.

摘要

一项对17个家族中贝氏肌营养不良症与4种X染色体特异性DNA多态性之间连锁关系的研究表明,该基因位于Xp,正如单一家系分析所预期的那样。特别是分别由探针D2和RC8鉴定出的DXS43和DXS9位点,彼此紧密连锁,且都位于距贝氏位点约15厘摩处。这些连锁数据,连同先前确定的贝氏症与由探针L1.28鉴定出的DXS7位点之间的连锁关系,表明贝氏基因位于杜氏症已定位于的同一区域,同时也提供了有关X染色体不同DNA多态性之间相对遗传距离的信息。

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