专题综述dmd基因突变及突变检测技术研究进展.pdfVIP

2005 　11 November 2005 25 　11 Basic Clinical Medicine Vol.25　No.11 :100 1-6 32 5(2 00 5)1 1-0 97 5-0 7 　 DMD ＊ 朱海燕, 邬玲仟 , 梁德生, 夏家辉 ( , 410078) (DMD/BMD) X 。DMD , : , , DMD dystro hin , 、 、DMD ,DMD 、, 。 :DMD ;dystro hin ;; :R746.2　　:A Progress of DMD gene, mutations and mutation detection technology ZHU Hai-yan,WU Ling-qian,LIANG De-sheng,XIA Jia-hui (National Laboratory of Medical Genetics, Central South University,Changsha 410078, China) Abstract:Dystro hino athies are X-linked recessive diseases caused by the com lex mutations of the gigantic dystro hin gene (DMD ).With the develo ment of the molecular biology, the further research and recognization of DMD gene and its rotein, it becomes a hots ot to discover sim le, recise and economic mutation detection technology for DMD gene.Here, we reviewed the current understanding of this gene and the genoty e-heno- ty e relation for mutations in the DMD gene, and simultaneously introduced some new mutation detection tech- nologies for this gene. DMD gene;dystro hin;gene mutation;gene diagnosis Key words: 　　(muscular dys- 、、 tro hy, DM D/BM D), 3 500 。 DMD 。DMD 1 　DMD dystro hin ,、 1.1 　DMD dystrophin , 13 , D MD , , 20 / X 21,2.5 Mb, 。DMD , BMD , 0.1%, X 1.5%。 、, 16 , 99%, 79 40 ～50 。, 7 ( 1)。 :2005-11-04 :(973)(2001CB510302) ＊(corresponding author):0731-4804711;0731-4478152(fax);wulq@ 976 　　Basic Clinical Medicine 2005.25 (11) mRNA 1.4 kb,、, actin , 。 3 (iso- , dystroglycan、dystrobrevin [1] form ), , syntro hin 。 ( B、 M、 D