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

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Cell Research 1994年第2期4卷 201-215页

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 Institute of genetics National Key Laboratory of Genetic Engineering Fudan University Shanghai China Department of Neurology Fujian Medical College Fuzhou China

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.

关键词： dmd gene Exon-containing fragment Bgl Ⅱ RFLPs dmd carrier indentification

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A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy

A Chinese family with fragile X syndrome and atypical Becker...

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第十四次全国医学遗传学学术会议

作者： Yan Tizhen Tan Jian-qiang Tang Ning Cai Ren Zeng Dingyuan Luo Shi-qiang Ya Jiaolian Pan Lizhen Li Wugao Li Zhetao Zhong Qingyan Key Laboratory of birth defects prevention and control Department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Prenatal diagnosis Liuzhou Municipal Maternity and Child Healthcare Hospital

Background:The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region,containing the(CGG)n repeat expansion in the FMR1gene is associated with fragile X syndrome;and rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies(dmd or BMD).Methods:The family was analyzed by polymerase chain reaction,multiplex ligation—dependent probe amplification(MLPA),PCR-CE microfluidic DNA analysis system and haplotype ***:We report on a Chinese family with two affected boys,the elder diagnosed with fragile X syndrome and atypical Duchenne or Becker muscular dystrophy,the younger with fragile X *** mother proved to be an asymptomatic carrier of the two non-contiguous mutation events,involving the FMR1gene(CGG)n repeat expansion and the dmd gene ***:To the best of our knowledge,this is the rare description of an asymptomatic carrier of two different X-linked disorders,involving severe genetic rearrangements on both long and short arms of the X *** boy with fragile X syndrome has inherited a second recombinant maternal X chromosome,this way inheriting the FMR1 expansion,originating most probably from different maternal Xes and excluding the dmd gene *** transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations.

关键词： Fragile X syndrome Duchenne muscular dystrophy FMR1 gene dmd gene Chromosome aberrations

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