异源双链分析和单链构象多态性分析在基因突变检测中的作用  

COMPARISON OF HETERODUPLEX ANALYSIS AND SSCP IN GENE MUTATION SCREENING

作　　者：刘晓军[1] 郭辰虹[1] 邹雅群[1] 卢勇[1] 陈丙玺[1] 龚瑶琴[1] 

机构地区：[1]山东大学医学院医学遗传学教研室

出　　处：《山东医科大学学报》2001年第2期167-168,共2页Acta Academiae Medicinae Shandong

基　　金：山东省卫生厅资助课题

摘　　要：目的 :评价异源双链分析 (HET)和单链构象多态性分析 (SSCP)在基因突变检测中的作用。方法 :同时应用两种方法检测 2 3例肺腺癌标本中 p53基因和 p16基因突变情况。 结果 :用HET法检出 6例p53基因突变和 5例 p16基因突变 ,用SSCP法检出 3例 p53基因突变和 1例 p16基因突变 ,联合应用HET和SSCP方法检出 7例 p53基因突变和 5例 p16基因突变。 结论 :检测基因突变HET优于SSCP ,联合应用HET和SSCP能提高基因突变检出率。Objective:To assess the roles of single stranded conformation polymorphism(SSCP)and heteroduplex polymorphism(HET)in screening gene mutation.Methods:The mutations of p53 gene and p16 gene in tumor tissues from 23 patients with lung cancer were analyzed by SSCP and HET.Results:Six mutatons in p53 gene and 5 mutations in p16 gene were detected by HET technique.Three mutations in p53 gene and 1 mutation in p16 gene were detected by SSCP technique.Seven mutations in p53 gene and 5 mutations p16 gene were detected by HET and SSCP together.Conclusion:HET is better than SSCP in screening gene mutation.Detection rate can be improved by HET and SSCP together.

关 键 词：异源双链分析 单链构象多态性分析 基因P53 基因突变 基因P16 DNA突变分析 

分 类 号：Q343.13[生物学—遗传学]