|
|||||
|
|
A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis |
|
| Authors: | D. O. Robinson David J. Bunyan Henry A. Gabb I. Karen Temple Shu C. Yau |
| Affiliation: | (1) Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK Tel.: +441722 336262 ext. 4080; Fax: +441722 338095, GB;(2) Imperial Cancer Research Fund, 44 Lincoln’s Inn Fields, London WC2A 3PX, UK, GB;(3) Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton S016 5YA, UK, GB;(4) Paediatric Research Unit, Division of Medical and Molecular Genetics, United Medical and Dental Schools of Guy’s and St. Thomas’, Guy’s Tower, Guy’s Hospital, London SE1 9RT, UK, GB |
| Abstract: | A case of Duchenne muscular dystrophy is described with an unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene. The sequences on either side of the deletion have a high degree of intrastrand base complementarity. It is hypothesised that the mechanism generating the deletion may have been the formation of a hairpin loop structure in a single strand of DNA followed by enzymatic degradation at unpaired regions within the loop. Received: 4 January 1997 / Revised: 21 January 1997 |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |