基于HRM方法检测乳腺癌组织TOX3,PPP2R1A,PTEN基因突变

Mutants detection in TOX3,PPP2R1A,PTEN genes of breast cancer tissues based on HRM analysis

该研究通过高分辨率溶解曲线(HRM)分析法对36例乳腺癌组织TOX3基因的7号外显子、PPP2R1A基因的6号外显子、PTEN基因的5号外显子进行突变位点检测,利用DNA测序分析法进一步验证。结果显示TOX3基因的7号外显子与PPP2R1A基因的6号外显子中无突变,但在PTEN基因5号外显子第1408位核苷酸序列由A突变为T,导致其编码氨基酸由N突变为Y,所检测的36例乳腺癌组织中有11例检测到突变,HRM结果与DNA测序结果分析一致。

In this study,high resolution melting curve(HRM)analysis was used to detect the mutants in the seventh exon of TOX3 gene,the sixth exon of PPP2R1A gene and the fifth exon of PTEN gene in 36 breast cancer tissues and one normal tissue.DNA sequencing was used to further verified the results of HRM analysis.No mutant was detected in the seventh exon of TOX3 gene and the sixth exon of PPP2R1A gene both by HRM and DNA sequencing.A mutant in 1408 th(from A to T)of gene PTEN in the fifth exon both in HRM analysis and DNA sequencing,leading to the amino acid mutation from N to Y.Eleven of the 36 breast cancer tissues had the mutant in the fifth exon of PTEN gene.All the results of HRM analysis were agreed with DNA se-quencing.