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目的探讨河南食管癌高发区食管癌家族史阳性患者基因组变化特征。方法应用比较基因组杂交技术分析13例食管癌家族史阳性和32例食管癌家族史阴性患者染色体基因组变化。结果10q染色体部位DNA拷贝数扩增在食管癌家族史阳性患者为23%(3/13)而食管癌家族史阴性患者中无发生(P<0.05)。15q染色体部位DNA拷贝数丢失在食管癌家族史阳性为38%(5/13),明显高于食管癌家族史阴性的6%(2/32)(P<0.05)。3q、8q、7p、5p等染色体部位DNA拷贝数增加和3p、19q、9q等染色体部位DNA拷贝数丢失在食管癌家族史阳性和阴性患者中发生率均超过20%(P>0.05)。结论10q、15q可能存在与食管癌遗传高易感性相关的关键基因,而3q、8q、7p、5p、3p、19q、9q等可能存在与环境因素相关的食管癌关键基因。
Objective To investigate the genomic changes of esophageal cancer patients with positive family history of esophageal cancer in Henan province. Methods Genomic hybridization was used to analyze the chromosomal genomic changes in 13 patients with positive family history of esophageal cancer and 32 patients with negative family history of esophageal cancer. Results The amplification of DNA copy number in chromosome 10q was found in 23% (3/13) of patients with positive family history of esophageal cancer and in none of family members with negative family history of esophageal cancer (P <0.05). The loss of DNA copy number in chromosome 15q was 38% (5/13) in the family history of esophageal cancer, which was significantly higher than that in esophageal cancer (6/32) (P <0.05). The DNA copy number of chromosomes 3q, 8q, 7p, 5p and the loss of DNA copy number of chromosomes such as 3p, 19q and 9q were all over 20% in the positive and negative family members of esophageal cancer (P> 0.05). Conclusions 10q, 15q may be associated with genetic susceptibility to esophageal cancer-related key genes, and 3q, 8q, 7p, 5p, 3p, 19q, 9q and other environmental factors may exist related to esophageal cancer key genes.