面肩肱型肌营养不良症染色体4q35和10q26的易位  

Translocation between Chromosomes 4q35 and 10q26 in Facioscapulohumeral Muscular Dystrophy

作　　者：苏全喜 张成[2] 曾缨[2] 卢锡林[2] 刘晓蓉 王展航[2] 朱燕珍[2] 

机构地区：[1]Department of Neurology,Guangzhou Railway Central Hospital,Guangzhou [2]中山大学附属第一医院神经科,广州510080 [3]Department of Neurology,Second Affiliated Hospital of Guangzhou Medicial College,Guangzhou

出　　处：《中国医学科学院学报》2003年第5期581-584,共4页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金(39870804;30170337);广东省自然科学基金(970061);广东省卫生厅科研基金项目(A2000149);卫生部临床学科重点项目(2001321)资助~~

摘　　要：目的了解面肩肱型肌营养不良症(facioscapulohumeralmusculardystrophy,FSHD)患者及中国正常人群中染色体4q35和10q26易位的分布状况。方法采用BglⅡ-BlnⅠ剂量检测方法,对70名FSHD患者、55名FSHD患者的亲属及52名正常人的染色体4q35和10q26易位的分布状况进行研究。结果(1)正常人群中4q35和10q26之间总的易位率为19.23%,其中4q35至10q26的易位率为9.62%,10q26至4q35的易位率为9.62%。(2)FSHD患者中4q35和10q26之间总的易位率为18.57%,其中4q35至10q26的易位率为12.86%,10q26至4q35的易位率为5.71%。结论在中国正常人群与FSHD患者中,染色体4q35和10q26之间较频繁地发生易位,两组之间的易位率差异没有显著性。To investigate the distribution of translocation between chromosomes4q35and10q26in facioscapulohumeral muscular dystrophy(FSHD)patients and normal individuals.Methods The BglⅡ-BlnⅠdosage test was performed to study the distribution of translocation between chromosomes4q35and10q26in70cases of FSHD patients,55cases of kindred with FSHD,and52cases of normal controls.Results(1)In normal individuals,the frequency of translocation between chromosomes4q35and10q26is19.23%.The frequency of translocation from chromosome 4q35to10q26and that from chromosome 10q26to4q35are both9.62%.(2)In the FSHD patients,the frequency of translocation between chromosomes4q35and10q26is18.57%.The frequency of translocation from chromosome 4q35to10q26and that from chromosome 10q26to4q35are12.86%and5.71%respec-tively.Conclusions The translocation between chromosomes4q35and10q26was frequently observed in both normal Chinese population and FSHD patients.No significant difference was observed between them.

关 键 词：面肩肱型肌营养不良症 染色体易位 分子发病机制 

分 类 号：R746.2[医药卫生—神经病学与精神病学]