JGG >>2004 >>31 >>(5)
JGG 2004, 31(5) 449-453 DOI:      ISSN: 1673-8527 CN: 11-5450/R           
  

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本文关键词相关文章
肌营养不良症
基因缺失
多重PCR
产前基因诊断
本文作者相关文章
PubMed
东北地区抗肌营养不良蛋白基因缺失的研究及应用
鲁阳1;2;金春莲1;①; 林长坤1; 武盈玉3; 刘丽英1 ;孙开来1
1. 中国医科大学基础医学院医学遗传学教研室; 沈阳110001;2. 沈阳市妇婴医院;沈阳 110014; 3. 中国医科大学附属第二医院儿童保健室;沈阳110003
摘要: 为了解东北地区Duchenne/Becker型肌营养不良症患者基因缺失的分布及进行产前基因诊断,用12对引物以多重PCR法检测120例DMD/BMD患者,并分析缺失型患者dystrophin基因的断裂点分布及各引物优化组合,并将高危男性胎儿行缺失检测。结果表明,缺失检出率为49.2%,66.4 %的断裂点位于内含子44~52内,以内含子50为最多(14.8 %) ,4对引物的优化组合为48、51、45和8,总检出率为41.7 %;29例高危胎儿中9例男性胎儿为缺失型,缺失位点与先证者相同。通过首次对我国东北地区DMD/BMD患者筛查缺失发现 dystrophin基因缺失主要分布于两个热区内,与国内其它地区比较外显子8附近区域可能是该地区缺失断裂的高发区;内含子44~52高度不稳定,其中内含子44的稳定性要高于中央缺失热区的稳定性,内含子50的不稳定性存在地区及种族差异;引物优化组合为检测患者及产前基因诊断提供了捷径,尤其是对散发家系是可行的并且有其优越性。
关键词肌营养不良症   基因缺失   多重PCR   产前基因诊断  
Studying Dystrophin Gene Deletion in the Northeast of China and Applicating
LU Yang,JIN Chun-Lian,LIN Chang-Kun,WU Ying-Yu,LIU Li-Ying,SUN Kai-Lai
1.Department of Medical Genetics; China Medical University; Shenyang 110001; China; 2. Department of Gynaecology and Obstetrics; Gynaecology and Obstetrics Hospital of Shenyang City; Shenyang 110014 ; China; 3. Department of Children Health Care; China Medical University Affiliated 2nd Hospital;Shenyang 110003; China
Abstract:

To detect the distribution characteristics of dystrophin gene deletions of the DMD/BMD patients in the northeast of China and apply for prenatal gene diagnosis,we have analyzed the distribution of the breakpoints of the deleted-patients and the optimized primer-assembly after screening detected deletion by multiplex PCR.Results indicated the deletion frequency was49.2%,about 66.4% deletion breakpoints positioned in introns 44~52,intron 50 was the highest breakpoint (14.8%).The optimized four-Primer-assembly was the primers of exon 48,51,45 and 8,which could detect 41.7% deletions of all cases;9 deletions male ones of 29 high-risk fetuses were detected,who had the same deletion-segments as their probands.For the first time screening deletions of DMD/BMD patients in the northeast of China,we have found distribution of the deletions mainly lied in two hot-spots,neighboring regions of exon 8 might be a real deletion ’hot spot’in this area compared with other areas of our country;introns 44~52 of dystrophin gene were highly unstable and prone to break:intron 44 was more stable than the whole molecular region of ’central deletion hot spot’ and the unstability of intron 50 changed along with the regional and ethnic difference;the optimized primer-assembly provided the short-cut for detecting patients and making prenatal gene diagnosis,especially it’s feasibleand advantageous for the isolated pedigrees.

Keywords: Muscular dystrophy   Gene deletion   Multiplex polymerase chain reaction   Prenatal gene diagnosis  
收稿日期 1900-01-01 修回日期 1900-01-01 网络版发布日期 2004-05-10 
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