P16基因与散发性食管癌的研究

Investigation of P16 Gene and Sporatic Esophageal Tumors

本文对47例散发性食管癌中P16基因的第二外显子 ,先用外侧引物扩增进行缺失筛查 ,再用三对内侧引物扩增经首次外侧引物扩增所得的PCR的产物 ,进行套式PCR结合SSCP及PCR直接银染测序技术检测突变。结果检出食管癌中有2例缺失 ,5例突变。在检测出的食管癌的突变中 ,我们发现所有的突变均为125位密码子的错义突变 ,为CGG→CTG的颠换 ,使p16蛋白该位的碱性的精氨酸变为酸性的亮氨酸。这一结果提示P16基因可能与食管癌的发生密切相关。本文参考P16基因的结构功能区对所测突变进行了讨论 。

To elucidate the involvement of abnormalities of exon2 of P16 gene located at chromosomal region 9p21 in the development of upper disgective tract cancer,we analysed DNA from 47 patients with sporadic esophageal tumors using PCR,nested_PCR,SSCP,PCR_direct DNA sequencing.We detected allelic deletions in 2 samples(4.2%),missense mutations in 5 samples(10.6%).Furthermore these mutations were the CGG→CTG transversion at the same site of the codon 125,leading to the change from Arg→Leu,once transcribed.