论文部分内容阅读
目的 测定中国人 p5 3基因内含子 7序列的多态性位点。方法 收集 10 5名正常人外周血标本 ,用聚合酶链反应扩增 p5 3基因第 7内含子 ,用双链四色荧光标记测序方法进行序列分析。结果 在p5 3基因第 7内含子上 ,距外显子 7最后一个碱基 73bp处有 1个 C和 T多态位点、距 93bp处有 1个 T和 G多态位点 ,其中基因型呈 TG型的 2 2例 ,呈 CT型的 37例 ,CT/ TG杂合型的 46例 ,未发现基因型为TT和 CG单体型的个体。前一个多态位点有 1个 Apa 酶切位点的变化。基因频率为 :CT=0 .5 7,TG=0 .43。结论 p5 3基因内含子 7上有 2个多态性位点 ,且这两个多态性位点属于连锁不平衡 ,这在亲缘关系和法医鉴定等方面有重要价值
Objective To determine the polymorphism of intron 7 in Chinese p5 3 gene. Methods A total of 105 normal human peripheral blood samples were collected. The seventh intron of p5 3 gene was amplified by polymerase chain reaction and sequenced by double-stranded four-color fluorescent labeling. Results There was one polymorphic site of C and T at 73 bp from the last base of exon 7 on the 7th intron of p5 3 gene and one T and G polymorphic site at 93 bp, Twenty-two cases of TG type, 37 cases of CT type, 46 cases of CT / TG heterozygous type, no genotype TT and CG haplotype individuals were found. The former polymorphic site has 1 Apa cleavage site changes. Gene frequency: CT = 0.57, TG = 0.43. Conclusion There are two polymorphic sites in intron 7 of p5 3 gene, and the two polymorphic sites belong to linkage disequilibrium, which has important value in genetic relationship and forensic identification