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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 investigate the role of tumor suppressor gene in the occurrence and development of esophageal cancer in the Kazakh nationality, and to elucidate the mechanism of high incidence of esophageal cancer in the Kazakh population, and to provide the basis for the molecular level. METHODS: PCR was used in combination with restriction fragment length polymorphism (RFLP) analysis and silver stained single-strand conformation polymorphism (SSCP) analysis on 41 cases of primary esophageal cancer in Xinjiang and familial colon in normal tissues. Adenomatous polyposis susceptibility gene (APC) 11th exon heterozygous deletion (LOH) and point mutations were detected. RESULTS: Among 31 individuals, 13 cases showed loss of heterozygosity and the missing rate of heterozygosity was 41.9%. Among them, the Kazakh heterozygous deletion rate was 50.0% (7/14). This is 35.3% (6/17). The point mutation rate was 24.4% (10/41), among which the point mutation rate of Kao esophageal cancer was 30.0% (6/20), and the point mutation rate of Han esophageal cancer was 19.0% (4/21). ). Conclusion: The LOH of exon 11 of APC tumor suppressor gene exists in the clinical stages of esophageal cancer. LOH is not the result of cancer. It may be an early factor of cancer and is related to the degree of malignancy of esophageal cancer.