p16基因突变与子宫内膜癌关系的研究

Study on the relationship between the mutations of p16 gene and endometrial carcinoma

摘要: 目的　研究 p16基因的突变在子宫内膜癌发生、发展中的作用。方法　应用PCR SSCP及DNA测序对 4 0例子宫内膜癌中 p16基因第二外显子缺失及序列改变进行研究。结果　 4 0例子宫内膜癌中 12例存在 p16基因的第二外显子 5 2 2bp的纯合缺失, 10例存在点突变 (突变位点相同 ), 突变位点之一为第 12 6密码子硷基GTC→AAT(错义突变 ), 另一突变位点为第 12 7密码子GCA→GCG(同义突变 ), 缺失及突变共占 5 5 %。结论　p16基因的突变与子宫内膜癌的发生有明显的相关性。

Abstract: Objective To study the relationship between the alterations of p16 gene and the occurrence and development of the endometrial carcinoma. Methods The alterations of p16 gene were studied by ploymerase chain reaction single strand conformation polymorphism(PCR SSCP) and DNA sequencing in 40 endometrial carcinomas. Results The exon 2 of p16 gene occurred 522bp homozygous deletion in 12 cases. The point mutations at the same site were detected in 10 cases, and one of mutating sites was GTC→AAT(Val126Asn) on...