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目的探讨河南食管贲门癌高发区贲门癌肿瘤家族史阳性/阴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14例贲门癌家族史阳性和28例贲门癌肿瘤家族史阴性患者染色体基因组变化。结果贲门癌家族史阳性患者DNA拷贝数扩增高于阴性(>20%)者的染色体部位为20p(FH+50%与FH-21%),5p(FH+50%与FH-18%),6q(FH+43%与FH-18%),16q(FH+36%与FH-14%);贲门癌家族史阳性患者DNA拷贝数丢失高于阴性(>20%)者为4q(FH+43%与FH-14%)(P>0.05)。1q、3q、6q/p、7p、8q、13q/p、20q/p染色体部位DNA拷贝数扩增和1p、17q/p、19p染色体部位DNA拷贝数丢失在贲门癌家族史阳性和阴性患者中均超过20%(P>0.05)。结论20p、5p、6q、16q、4q、17q、18q、9p、22q可能存在与贲门癌遗传高易感性相关的关键基因;而1q/p、3q、6q/p、7p、8q、13q/p、20q/p、17q/p、19p可能存在与环境因素相关的贲门癌关键基因。
Objective To investigate the genomic changes in patients with positive or negative family history of cardia cancer in Henan esophageal and cardia cancer high incidence areas. Methods Genomic hybridization was used to analyze the genomic changes in 14 cases of cardia cancer family history and 28 cases of gastric cardia cancer family history negative patients. Results The DNA copy number of patients with positive family history of cardia cancer had 20p (FH + 50% and FH-21%), 5p (FH + 50% and FH-18%) higher than that of the negative (> 20% , 6q (FH + 43% vs FH-18%), 16q (FH + 36% vs FH- 14%); DNA copy number loss in patients with positive family history of cardia cancer was 4q + 43% and FH-14%) (P> 0.05). Amplification of DNA copy number at 1q, 3q, 6q / p, 7p, 8q, 13q / p and 20q / p chromosomal regions and loss of DNA copy number at 1p, 17q / p and 19p chromosomal regions In patients with positive and negative family history of cardia cancer All more than 20% (P> 0.05). Conclusions There may be some key genes related to the genetic susceptibility to cardia cancer in 20p, 5p, 6q, 16q, 4q, 17q, 18q, 9p and 22q. , 20q / p, 17q / p, 19p may be associated with environmental factors related to cardia cancer key genes.