Structural analysis of DMD gene and its clinical application in Chinese.Ⅰ. Bgl Ⅱ exon-containing fragment,RFLP and carrier detection

作     者：YU LONG NING WANG YU DENG YUMEIYANG SHENXING MURONG SHOUYUAN ZHAO(Institute of Genetics, National Key Laboratory of Genetic Engineering, Fudan University, Shanghai 200433,China)(Department of Neurology, Fujian Medical College,Fuzhou, China)(Correspon 

作者机构：Institute of Genetics National Key Laboratory of Genetic Engineering Fudan University Shanghai China Department of Neurology Fujian Medical College Fuzhou China 

出 版 物：《Cell Research》 (细胞研究(英文版))

年 卷 期：1994年第4卷第2期

页      面：201-215页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

主　　题：DMD gene Exon-containing fragment Bgl Ⅱ RFLPs DMD carrier indentification 

摘      要：This article is one of the serial studies oll the characteristics of the molecular structure for dystrophin gene in Chinese. By using the entire dystrophin cDNA (14 kb) as a probe- the number and RFLPs of Bgl Ⅱ exon-containing fragments of the dystrophin gene were analysed. Four new Bgl Ⅱ fragments were found, two of them (3.7 and 6.2 kb) detected by comparing the hybridization patterns with cDNA1-2a. 1a and 2a, one (9.3 kb) from the hybridization pattern with cDNA 9 by lengthening migrating distance of DNA fragments in electrophoresis. and another one (4.0 kb) by comparing the patterns with cDNA 11-14,11a- 11b 11c-12a and 14. The results indicated that the number of Bgl Ⅱ exon-containing fragments should be 59 rather than 55 reported previously, which laid the foundation of the Bgl Ⅱ partial restriction map for dystrophin gene. Three of the four RFLPs found in Caucacian appear in the hybridization patterns of three subclones, *** 2b-3. cDNA 4-5, and cDNA 5b-7. The values of expected heterozygote frequency (EHF) were 0.33, 0.33and 0.40 and the observed heterozygote frequency (OHF)were 0.40. 0.40 and 0.48 respectively. Meanwhile, two new rare allelic fragments (15 kb) were found in RFLPs from Bgl Ⅱ/2b-3 and Bgl Ⅱ/4-5a patterns respectively. These Bgl Ⅱ RFLPs and four XbaI RFLPs documented in our laboratory, have been used to detect the carrier in 7 DMDfamilies and 1 BMD family. Of the 69 individuals from the 8 families- 11 females were diagnosed as the carriers with DMD mutation, 4 females as the doubtful carriers, 12 females were defined as normal genotype and 2 females as probably normal. The results suggest that the carrier testing method based on dosage intensity analysis and genotype analysis by using dystrophin cDNA as a probe will be more sensitive and accurate.