中国临床药理学与治疗学2011，Vol.16Issue(6)：647-651,5.
焦磷酸测序技术检测LAMA5rs944895基因多态性方法的建立
Development of pyrosequencing method for detection of LAMA5 rs944895
摘要
Abstract
AIM: To establish a pyrosequencing based method for detection LAMA5 rs944895 polymorphism and to determine the frequency of this polymorphism in healthy Chinese. METHODS: After preparation of gDNA from blood of 201 subjects, LAMA5 rs944895 target fragments were amplified by PCR, LAMA5 rs944895 polymorphism was detected on PyroMark ID by pyrosequencing technology.The reliability of pyrosequencing method was validated by repeat tests and Sanger sequencing.RESULTS:We established a new pyrosequencing method to detect the LAMA5 rs944895 polymorphism in healthy Chinese. The detection rate and repetiti on rate were both 100％. The frequencies of A allele and G allele were 72.4％ and 27.6％, respectively. And the frequencies of AA, AG and GG genotype were 53.2％, 38.3％ and 8.5％, respectively. The genotype frequencies match the Hardy-Weinberg equilibrium (P = 0.55). CONCLUSION: This pyrosequencing assay to detect the LAMA5 rs944895 polymorphism is proved to be a rapid, accurate and highthroughput alternative to conventional methods,and it can be a preferred option in research and clinical application.关键词
焦磷酸测序/多态性/LAMA5/序列分析Key words
Pyrosequencing/ Polymorphism/LAMA5/ Sequencing分类
医药卫生引用本文复制引用
贾政军,王华,彭向京,黄定梅,王果..焦磷酸测序技术检测LAMA5rs944895基因多态性方法的建立[J].中国临床药理学与治疗学,2011,16(6):647-651,5.基金项目
国家自然科学基金项目(81072706) （81072706）
湖南省科技计划项目(2009JT3020) （2009JT3020）
教育部博士点(新教师)基金项目(20090162120024) （新教师）
湖南省卫生厅科研基金 （）
