摘要
目的：探讨抑癌基因在哈萨克族（简称哈族）食管癌发生、发展中的作用，阐明哈族食管癌高发的机理，从分子水平提供依据。方法：应用ＰＣＲ技术并配合限制性片段长度多态性（ＲＦＬＰ）分析和银染的单链构象多态性（ＳＳＣＰ）分析法对４１ 例新疆地区原发性食管癌及正常组织中家族性结肠腺瘤样息肉易感基因（ＡＰＣ）第１１ 外显子杂合缺失（ＬＯＨ）及点突变进行检测。结果：３１ 例信息个体中１３ 例显示杂合缺失，杂合缺失率为４１．９％ ，其中哈族的杂合缺失率为５０．０％ （７／１４），而汉族的杂合缺失率为３５．３％ （６／１７）。点突变率为２４．４％ （１０／４１），其中哈族食管癌的点突变率为３０．０％ （６／２０），汉族食管癌的点突变率为１９．０％ （４／２１）。结论：ＡＰＣ抑癌基因第１１ 外显子的ＬＯＨ 存在于食管癌的各个临床分期，ＬＯＨ不是癌症发生的结果，可能是癌症发生的早期因素，且与食管癌的恶性程度有关。
Objective: To explore the mutation of tumor suppressor gene APC in Kazak's primary esophageal cancer, and their relationship in the pathogenesis and progression. Methods: We have performed a restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) by using the polymerase chain reaction (PCR) to examine loss of heterozygosity (LOH) and point mutation of tumor suppressor gene APC exon 11 in 41 patients with primary esophageal cancer. Results: LOH of APC exon 11 was detected in 13 out of 31 (41.9%) informative cases, among them LOH was detected in 7 out of 14 (50%) in Kazak's and in 6 out of 17 (35.3%) in Han's informative cases. Point mutation was detected in 10 out of 41 (24.4%) esophageal cancer samples, among them point mutation was detected in 6 out of 20 (30%) Kazak's and in 4 out of 21 (19%) Han's esophageal cancer respectively. Conclusion: These results suggest that there is a close relationship between the mutation of APC tumor suppressor gene and tumor differentiation,it may be a incidence in the early stage and involve in the pathogenesis and progression of esophageal cancer.
出处
《新疆医科大学学报》
CAS
1999年第2期79-81,共3页
Journal of Xinjiang Medical University
关键词
食管肿瘤
APC抑癌基因
等位基因
点突变
esophageal cancer
APC tumor suppressor gene
restriction fragment length polymorphisms
single strand conformation polymorphisms
loss of heterozygosity
point mutation
