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目的：探讨食管癌高发区肿瘤遗传易感性的遗传基础。方法：应用病例对照配对调查及细胞遗传学技术，对四川省盐亭县食管癌高发区患者遗传度、染色体畸变率（CAR）、脆性部位（fra）及SCE频率、染色体端粒联合率等进行检测。结果：遗传度为18．20％；CAR、fra及SCE检出率高发家族成员为11.94±5．92％、6．9％及7．56±1．41／细胞，低发家族成员为5．71±3．91％、3．5％及5．24±0．92／细胞，正常人为5．92±3．42％、3．20％及4．91±151／细胞。高发家族与低发家族、正常人比较有显著差异（CARP＜0．01，fraP＜0．05，SCEP＜0．05）。染色体端粒联合率食管癌组为14．38％、正常对照组为9．38％，两者间具有显著差异（P＜0．01）。染色体端粒联合率食管癌组为14．38％、正常对照组为9．38％，两者间具有显著差异（P＜0．01）。结论：食管癌是与遗传因素密切相关疾病，其遗传易感性的遗传基础是染色体不稳定性的增高。
Objective: To investigate the genetic basis of genetic susceptibility to tumors in high-risk areas of esophageal cancer. METHODS: A case-control pairing survey and cytogenetic techniques were used to investigate the heritability, chromosome aberration (CAR), fragile site (fra), SCE frequency, and chromosome telomere association rate in patients with high incidence of esophageal cancer in Yanting County, Sichuan Province. Testing. Results: Heritability was 18.20%; CAR, fra, and SCE had high detection rate; family members were 11.94±5.92%, 6.9%, and 7.56±1.41/cell; low-family members were 5 .71±3.91%, 3.5%, and 5.24±0.92/cells, 5.92±3.42%, 3.20%, and 4.91±151/cell in normal subjects. The high-family family was significantly different from the low-family and normal controls (CARP<0.01, fraP<0.05, SCEP<0.05). The chromosomal telomere association rate was 14.38% in the esophageal cancer group and 9.38% in the normal control group. There was a significant difference between the two groups (P<0.01). The chromosomal telomere association rate was 14.38% in the esophageal cancer group and 9.38% in the normal control group. There was a significant difference between the two groups (P<0.01). Conclusion: Esophageal cancer is a disease closely related to genetic factors. The genetic basis of its genetic susceptibility is an increase in chromosomal instability.