摘要
目的 研究 YNZ2 2位点多态性在陕西汉族人群中分布规律及其与食管癌遗传易感性的关系 .方法 应用PCR- Amp- FL P技术 ,对陕西正常人群 ( 71例 )、食管癌组织( 3 8例 )及癌旁组织 ( 3 1例 ) YNZ2 2 - VNTR位点进行多态性分析 .结果 在正常人群中 YNZ2 2位点共检出 2 9种基因型 ,10个等位基因片段 ,片段大小范围在 168～ 93 8bp之间 ,杂合度为 70 .4 2 % ,PIC为 0 .84 ;在食管癌中共检出 YNZ2 2位点11种基因型 ,8个等位基因片段 ,杂合度为 10 .15 % ,PIC为0 .76;在癌旁组织中共检出 YNZ2 2位点 15种基因型 ,9个等位基因片段 ,杂合度为 4 6.67% ,PIC为 0 .79;正常人群与食管癌群体等位基因频率分布差异显著 ( χ2 =4 1.2 8;P<0 .0 1,DF=7) .在配对的食管癌及癌旁组织中 ,15例 ( 5 0 % )癌组织在该位点发生突变 ,其中 8例发生杂合性丢失 ,7例发生纯合型核心片段重复数减少 .在正常人群中 A7,A8两等位基因片段均可检到 ,在癌旁组织中只检到 A8基因片段 ,而在食管癌组织中二者均末检到 .结论 YNZ2 2为高度多态的遗传标记 .其多态性改变 (核心片段重复数减少 )与食管癌的易感性关系较密切 .
AIM To observe the polymorphism of YNZ22 locus in 71 normal unrelated subjects from Han population in Shaanxi Province, and assess its possible relationship with susceptibility of esophageal cancer so as to provide clues for genetic markers of esophageal cancer. METHODS The polymorphism of YNZ22 VNTR locus was studied by PCR Amp FLP in the 71 normal subjects, 38 esophageal cancer samples and 31 pericancerous non tumor samples. RESULTS Twenty nine genotypes and 10 alleles ranging from 168 bp to 938 bp were detected in the 71 normal subjects. The heterozygosity and PIC of YNZ22 were 70.42% and 0.84 respectively; 11 genotypes and 8 alleles were detected in esophageal cancer tissues. The heterozygosity was 10.15% and PIC was 0.76; 15 genotypes and 9 alleles were detected in pericancerous non tumor tissues. The heterozygosity was 46.67% and PIC was 0.79. There was a significant difference in allele frequency between that of the normal subjects and that of esophageal cancer ( χ 2=41.28; P <0.01, DF=7). Among the partnerships between esophageal cancer tissues and pericancerous non tumor tissues, mutation of YNZ22 locus was observed in 15 cases (Loss of heterozygosity was detected in 8 cases and pure reduction in core segment repetition number was detected in 7 cases). A7 and A8 allele fragments were all detected in the 71 normal subjects, and only A8 allele fragment was detected in pericancerous non tumor tissues. Neither of the two allele fragments was detected in esophageal cancer tissues. CONCLUSION YNZ22 is a highly polymorphic genetic marker. There should be a closer correlation between the alteration of its polymorphism (reduction of core segment repetition number) and esophageal cancer susceptibility.
出处
《第四军医大学学报》
北大核心
2001年第13期1153-1156,共4页
Journal of the Fourth Military Medical University
基金
国家自然科学基金资助项目 ( 3960 0 12 6)
