摘要
目的:探讨上皮钙粘素(E-cadherin,CDH1)基因Exon1非编码区234bp位点插入/缺失多态性与膀胱移行细胞癌(TCCB)生物学行为之间的关系。方法:从TCCB组180例,对照组健康人110例的血液中提取人基因组DNA,PCR获取包含CDH1基因启动子近侧序列-160位点和Exon1的DNA片段,DNA测序方法测得上述DNA片断的基因序列。选择χ2检验进行统计学分析,Woolf法计算OR值(odd sratio,OR)和95%CI。结果:CDH1基因Exon1非编码区234bp位点插入片断碱基序列为5'-CCGTGCCCCAGCC-3',其插入/缺失多态性基因型分为插入\插入纯合子(I/I)、缺失\缺失纯合子(D/D)和插入\重复插入杂合子(I/2I)三种。TCCB组该位点I/2I基因型频率(0.54)高于对照组(0.35)(P<0.01),提示I/2I基因型患TCCB风险较高(OR=2.15,95%CI1.32~3.52)。结论:CDH1基因Exon1非编码区234bp位点2I等位基因频率与膀胱移行细胞癌的发生密切相关。-160A/A-234I/2I基因型与膀胱移行细胞癌的发生密切相关。
Objective:To investigate whether an Insertion/Deletion polymorphism in noncoding region of Exon 1 of CDH1 gene was associated with susceptibility of TCCB. Methods:A hospital-based case-control study was performed on 180 patients with TCCB and 110 normal controls. Genomic DNA was extracted from blood samples of the subjects. DNA fragments including -160 bp position and Exonl were obtained by PCR. Genotypes were determined using DNA sequencing. Significance of difference was determined by Chi square test. Calculation of OR and 95 % CI was performed by Woolf method. Results: A 5-CCGTGCCCCAGCC-3 Insertion/Deletion polymorphism in 234 position of Exonl of CDH1 gene was detected by DNA sequencing technique. Its genotype was homozygous for 5-CCGTGCCCCAGCC-3 allele insertion(I/I), homozygous for 5-CCGTGCCCCAGCC-3 allele deletion(D/D) and heterozygous for 5-CCGTGCCCCAGCC-3 allele insertion/repeat insertion(I/2I), respectively. The 21 allele frequencies were significantly higher in TCCB than in normal controls( P 〈0.05), and 1/21 carriers had a higher relative risk of TCCB (OR= 2.15, 95 % CI1. 32-3. 52) compared to I/I carriers. Conclusions: The 234 bp 21 allele frequency in noncoding region of Exonl of CDH1 gene as well as - 160A/A-234I/2I genotype were closed related to susceptibility of TCCB.
出处
《临床泌尿外科杂志》
2007年第1期57-59,62,共4页
Journal of Clinical Urology
基金
国家自然科学基金资助项目(No.30471737)