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Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis.

作者信息

Meitinger T, Boyd Y, Anand R, Craig I W

机构信息

Genetics Laboratory, University of Oxford, United Kingdom.

出版信息

Genomics. 1988 Nov;3(4):315-22. doi: 10.1016/0888-7543(88)90122-x.

DOI:10.1016/0888-7543(88)90122-x
PMID:3243546
Abstract

Balanced translocations with a breakpoint in the Xp21 region are likely to disrupt the giant Duchenne muscular dystrophy (DMD) locus and can be demonstrated in females suffering from the disease. Pulsed field gel electrophoresis allows the positioning of these breakpoints by detecting junction fragments on the derived chromosomes; DNA probes hybridizing to these fragments may be located as many as several hundred kilobases away from the breakpoints. By using this approach, 11 translocation breakpoints from the Xp21 region have been analyzed. The localization of three previously examined breakpoints was confirmed. Six other breakpoints, including a breakpoint flanking the DMD gene and not associated with the DMD phenotype, could be positioned relative to SfiI sites on a 3.5-Mb restriction map of the region.

摘要

相似文献

1
Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis.
Genomics. 1988 Nov;3(4):315-22. doi: 10.1016/0888-7543(88)90122-x.
2
Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.Xp21区域内12个易位断点相对于杜兴氏肌营养不良症基因座的定位。
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Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.杜兴氏肌营养不良症（DMD）基因座位于Xp21的进一步证据：一名患有DMD的女性的X;9易位。
J Med Genet. 1983 Dec;20(6):461-3. doi: 10.1136/jmg.20.6.461.

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