PCR-SSCP技术在Anderson Fabry病诊断中的应用

山东大学学报(医学版)

PCR-SSCP技术在Anderson Fabry病诊断中的应用

刘晓曼1，安丰双1，张运1，张澄1，安贵鹏1，颜墨磊2，杨兴胜1，王荣1

1. 山东大学教育部与卫生部心血管重构与功能研究重点实验室，山东济南 250012；2.杭州市浙江医院，浙江杭州 310013

收稿日期:2005-10-29 修回日期:1900-01-01 出版日期:2006-10-24 发布日期:2006-10-24
通讯作者: 刘晓曼

LIU Xiao-man1, AN Feng-shuang1, ZHANG Yun1, ZHANG Cheng1, AN Guipeng1, YAN Mo-lei2,YANG Xing-sheng1,　WANG Rong1

1. Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Public Health, Shandong University, Jinan 250012, Shandong, China;2.Zhejiang Hospital, Hangzhou 310013, Zhejiang, China

Received:2005-10-29 Revised:1900-01-01 Online:2006-10-24 Published:2006-10-24
Contact: LIU Xiao-man

摘要/Abstract

摘要： 目的：探讨聚合酶链反应单链构像多态性分析对于筛选Anderson Fabry病患者的应用价值。方法:对52例肥厚型心肌病患者GLA基因的7个外显子行聚合酶链反应，其扩增产物行单链构像多态性分析。对有条带异常者的所有产物行测序分析，并测定其α半乳糖苷酶A活性。对确诊的患者，以同样的方法筛选其家系成员。结果：1例患者的第一外显子的第1170位碱基由G突变为A。其α半乳糖苷酶A活性明显低下，证实为该病患者。该突变使5′端非蛋白质编码区序列发生改变，通过影响mRNA的翻译过程而导致该病。结论：聚合酶链反应-单链构像多态性分析可作为Anderson Fabry病的有效筛选手段。

关键词: 单链构像 , 多聚酶链反应, 多态现象, Fabry

Abstract: To analyze the value of polymerase chain reaction and single strand conformation polymorphism gel analysis in screening of Anderson Fabry disease. Methods: Specimens of peripheral blood were collected from 52 Chinese patients who had been diagnosed as hypertrophic cardiomyopathy. Single strand conformation polymorphism gel analysis of the polymerase chain reaction amplified products was conducted to search for mutations in the seven exons of GLA gene. The activity of αgalactosidase A was measured, and the relatives of patients with Anderson Fabry disease were screened in the same way. Results： A novel mutation was identified in the first exon of one patient, a missense mutation (G→A) at nucleotide 1170. His low αgalactosidase A activity confirmed the diagnosis of Anderson Fabry disease. The mutation caused changes of 5′ untranslated region in mRNA and affected the activity of αgalactosidase A through hindering the translation of mRNA. Conclusion： PCRSSCP can be used as a sensitive screening strategy for Anderson Fabry disease.

Key words: Fabry disease, Polymerase chain reaction, Polymorphism, singlestranded conformationalAnderson Fabry

刘晓曼,安丰双,张运,张澄,安贵鹏,颜墨磊,杨兴胜,王荣. PCR-SSCP技术在Anderson Fabry病诊断中的应用[J]. 山东大学学报(医学版), 2006, 44(10): 1065-1068.

LIU Xiao-man,AN Feng-shuang,ZHANG Yun,ZHANG Cheng,AN Guipeng,YAN Mo-lei,YANG Xing-sheng,WANG Rong. [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2006, 44(10): 1065-1068.

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