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《Acta Academiae Medicinae Militaris Tertiae》 2006-24
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Cytogenetic diagnosis on single lymphocyte of DMD patient with exon 50 deletion by two-time duplex PCR

YAN Jun-hao,CHEN Zi-jiang,QIN Ying-ying(Center for Human Reproduction,Shandong Provincial Hospital Shandong University,Jinan 250021,China)  
Objective To perform the cytogenetic diagnosis on single lymphocyte of DMD patient with dystrophin gene exon 50 deletion.Methods Single lymphocytes of a DMD patient with dystrophin gene exon 50 deletion and normal volunteers were picked out and prepared for two-time duplex PCR.Results The rate of precise positive was 92%,91% and 93% in specimens of the patient(SRY positive,exon 50 negative),the male volunteer(SRY positive,exon 50 positive)and the female volunteer(SRY negative,exon 50 positive),respectively.Conclusion Two-time duplex PCR is fit for the genetic diagnosis of single lymphocyte from DMD patient with dystrophin gene exon 50 deletion.
【Fund】: 国家自然科学基金资助项目(30470703);; 山东省“提高新生儿出生质量综合技术研究”基金资助项目(SDSP2004-0720-07)~~
【CateGory Index】: R746
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【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 Qing LI 1△, Shao-ying LI1, Dong-gui HU1, Xiao-fang SUN1, Dun-jin CHEN1, Cheng ZHANG2, Wei-ying JIANG2 (1.Guangzhou Second People’s Hospital, Guangzhou research institute of Obstetrics and Gynecology, Guangzhou 510150,China;2. Basic Medical College, Sun Yat-Sen University);Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy[J];Journal of Peking University(Health Sciences);2006-01
2 TU Ze-rong,SHI Chang-xu,LIANG Zhi-qing,et al.(Department of Gynaecology And Obstetrics,Southwest Hospital,Third Military Medical University,Chongqing 400038,China);Gene detection of duchenne's muscular dystrophy for four patients and clinical analysis[J];Chongqing Medicine;2008-06
3 TU Ze-rong1,WANG Yan2,LIANG Zhi-qing1,YAO Hong1,BAI Yun2,CHANG Qing1(1Department of Gynaecology and Obstetrics,Southwest Hospital,2Department of Medical Genetics,College of Medicine,Third Military Medical University,Chongqing 400038,China);Prenatal gene diagnosis for Duchenne muscular dystrophy[J];Acta Academiae Medicinae Militaris Tertiae;2008-10
4 TAN Qing-Rong,WU Bao-Ren and WANG Lian-Gang Department of Neurology,Xijing Hospital;Two-step multiplex polymerase chain reaction for gene diagnosis of progressive pseudohypertrophic muscular dystrophy[J];Journal of The Fourth Military Medical University;1993-06
5 LIU Yong-mei 1 , FENG Zhi-chun 1 , FANG Zhen-wei 2 1 Department of Pediatrics, Zhujiang Hospital, First Military Medical University, Guangzhou 510282, China;2 Department of Biochemistry, First Military Medical University, Guangzhou 510515, China;Application of PCR technique in genetic diagnosis of Duchenne/Becker muscular dystrophy[J];Journal of First Military Medical University;2002-08
6 HUANG Wen, ZHANG Cheng, CHEN Song-lin, FENG Hui-yu, ZENG Ying, YAO Xiao-li, LU Xi-lin Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China;Analysis of short tandem repeat polymorphism in a female patient with Duchenne muscular dystrophy[J];Journal of First Military Medical University;2003-10
7 ZHONG Min1, PAN Su-yue1, LU Bing-xun1, JIANG Li2, LI Wei1 1Department of Neurology, Nanfang Hospital; 2Institute of Molecular Biology, Southern Medical University, Guangzhou 510515, China;Cloning and sequencing of the junction fragment of dystrophin gene with exons 3 to 5 deletion[J];Journal of Southern Medical University;2006-06
8 LIU Guoli,LIU Chunyu,ZHAO Yun,et al. (Department of Obstetrics,Peking University People’s Hospital,Beijing 100044,China);Primary study on prenatal diagnosis of Duchenne muscular dystrophy[J];Chinese Journal of Clinical Obstetrics and Gynecology;2007-01
9 QIU Li-ping~△,LIN Yan-hong~△,ZHENG De-zhu,ZENG Jian,YAN Ai-zhen,LAN Feng-hua~* Center for Molecular Diagnosis of Genetic Diseases,Fuzhou General Hospital,PLA Nanjing Military Area Command,Fuzhou Clinical Medicine School of Second Military Medical University.Fuzhou 350025,Fujian,China;Exome sequencing discovered a novel splice donor mutation in dystrophin gene[J];Academic Journal of Second Military Medical University;2013-05
10 GUO Ya-jie,WANG Yong-hong,TONG Yue-juan,SHEN Chen(Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics,Ministry of Education, Beijing Pediatric Research Institute,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China);Analysis of Deletion Mutation in Dystophin Gene of Duchene/Becker Muscular Dystrophy Suspected Pediatric Patients[J];Labeled Immunoassays and Clinical Medicine;2013-03
【Secondary Citations】
Chinese Journal Full-text Database 1 Hits
1 Kuang Bohai Wu Yanguang Wang Anan Wu Wei * (Research Laboratory of Medical Genetics,Jiangxi Medical College,Nanchang 330006);Polymorphism of Four Short Tandem Repeat Sequences in Dystrophin Gene and Carrier Detection in DMD/BMD Families[J];Acta Academiae Medicinae Jiangxi;1999-04
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