DMD／BMD基因诊断研究　Ⅱ．Dystrophin基因中央突变热区缺失和重复分析  

A Study on Gene Diagnosis in DMD/BMD Ⅱ.Analysis of Deletions or Duplications in the Central Mutate Portion or Dystrophin Gene

作　　者：王柠[1] 余龙[1] 慕容慎行[1] 林红[1] 陈静[1] 赵寿元[1] 

机构地区：[1]福建医学院附属第一医院,复旦大学遗传学研究所

出　　处：《福建医学院学报》1995年第2期103-107,共5页

基　　金：国家自然科学基金;福建省教委科研基金

摘　　要：应用ｃＤＭＤ５ｂ－７，８，９，１０ＤｙｓｔｒｏｐｈｉｎｃＤＮＡ探针，对１１０例ＤＭＤ／ＢＭＤ无关个体进行核酸杂交分析，发现５３例存在不同程度的分子缺失，２例重复突变，且多发生于ｃＤＭＤ８所探测位置。为准确、快速地进行基因诊断和产前基因诊断提供了基础。Deletion and duplication screening in 110 unrelated Duchenne(DMD)and Backer(BMD)muscular dystrophy patients had been performed using cDNA probes 5b-7,8,9,10 by southern blot.53 cases were found to have deletions and 2 have duplications.Most of the DNA deletions and duplcations were concentrated in the region of cDNA probe 8.These results provide valuable information for gene detection and prenatal diagnosis of DMD.

关 键 词：DMD BMD 核酸杂交 基因 缺失 重复 基因诊断 

分 类 号：R446.69[医药卫生—诊断学]