Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Acta Academiae Medicinae Militaris Tertiae》 2008-10
Add to Favorite Get Latest Update

Prenatal gene diagnosis for Duchenne muscular dystrophy

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)  
Objective To establish a basis for genetic counseling and prenatal gene diagnosis of Duchenne muscular dystrophy(DMD).Methods Three pregnant DMD carriers visited our department and their fetal gender was determined by sex determining gene primer polymerase chain reaction(PCR)and cell karyotyping of amniotic fluid.The genomic DNA was extracted from the peripheral blood of the family members with DMD and fetal amniotic fluid or fetal umbilical vein blood.Then multiplicitas prime PCR and polyacrylamide gel method were used to analyze the polymorphism of the(CA)n short tandem repeat(STR)in 3' end and in the introns 44,45,49,50 of DMD gene.Results In the 4 fetuses,two singleton fetus and one of the twins were male,the other of twins was female.Gene deletion occurred in one pedigree and non-gene deletion in the other two pedigrees.Four fetuses had the same haploid of proband inherited from their mothers.The female fetus of the twins was risk DMD gene carrier,and the other three male fetuses were DMD risk ones.The mothers of three probands were heterozygous.Conclusion STR polymorphism-based linkage analysis is suitable for DMD patients no matter who had not been found common deletion or not.
【CateGory Index】: R746
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
Chinese Journal Full-text Database 1 Hits
1 ZHONG ChangK-gao,ZHANG Zhan, LI Lu-yun,et al.(Institute of Reproduction and Stem Cell Engineering,Citic Xiangya Reproductive & Genetic Hospital,Central South University;Changsha,Hunan,410078,China.);The Gene Diagnosis in 10 Families with DMD/BMD and Prenatal Gene Diagnosis for 3 of them[J];Journal of Clinical Research;2006-09
Chinese Journal Full-text Database 6 Hits
1 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
2 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
3 KONG Xiangdong,SHI Huirong,CHANG Qing,WANG Huaili ,WANG Huiling 1) Department of Gynecology and Obstetrics, the First Affiliated Hospital, Zhengzhou University, Zheng-zhou 450052 2) Department of Paediatrics , the First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052;Deletion analysis and prenatal diagnosis of 32 patients with Duchenne muscular dytrophy[J];Journal of Zhengzhou University(Medical Sciences);2008-01
4 LI Shao-ying SUN Xiao-fang LI Qing ZHANG Hui-min JIANG Yong-hua Institute of Obstetrics and Gynecology.Third Affiliated Hospital,Guangzhou Medical College.Guangzhou 510150,China;Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene[J];中国人民解放军军医大学学报(英文版);2007-06
5 YANG Guohua1,2,WANG Lei1,GONG Yuyan2,LIANG Zhihou1,REN Xiang11Human Genome Research Center,Huazhong University of Science and Technology,Wuhan 430074,China2School of Medicine,Wuhan University,Wuhan 4300071,China;Prenatal Gene Diagnosis for the Duchenne Muscular Dystrophy Risk Fetus by Molecule Markers[J];Medical Journal of Wuhan University;2009-06
6 WANG Li,WANG Tao,KANG Bing,et al. Medical Genetic Institute of Henan Provincial People's Hospital,Zhengzhou 450003,China;Prenatal gene diagnosis of 4 Duchenne muscular dystrophy pedigrees by PCR[J];Journal of Chinese Practical Diagnosis and Therapy;2010-02
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved