TaqMan-MGB法检测ACTN3基因R577X多态性

Detection of R577X polymorphism of ACTN3 gene by TaqMan-MGB

目的研制检测ACTN3基因R577X多态性的TaqMan-MGB探针方法。方法根据美国国立医学图书馆网站公布的人类ACTN3基因序列(rs1815739),设计检测ACTN3基因R577X多态性的特异引物和TaqMan-MGB探针,建立和优化实验条件。结果对98例西北大学汉族学生进行ACTN3基因R577X多态性检测,并对上述所有检测标本再进行碱基序列测序,两种检测方法的检测结果经Kappa分析,Kappa=0.99。结论两种检测方法结果一致性较好,建立了检测ACTN3基因R577X多态性的TaqMan-MGB法。

Objective To develop a TaqMan MGB probe method for the detection of R577X gene polymorphism in ACTN3 gene, Methods Designed to detect the ACTN3 R577X polymorphism of specific primers and TaqMan MGB probe,according to the National Library of Medicine published on the website of human ACTN3 gene sequence rs1815739, to establish and optimize the experimental conditions. Results 98 cases of Northwestern University Students of Han nationality of ACTN3 R577X polymorphism detection, and in all the specimens and sequence, two metlaods of detection results by kappa analysis,Kappa：0.99. Conclusion The results of the two methods are in good agreement,and the TaqMan-MGB method for the detection of R577X gene polymorphism in ACTN3 gene was established.