p53基因第7内含子序列的多态性位点分析  

An analysis of two polymorphic points of the 7th intron of human p53 gene

作　　者：顾其华[1] 舒畅[2] 叶爱慧[1] 吕新生[2] 唐孝亮[1] 况艳春[1] 

机构地区：[1]湖南省怀化市第一人民医院分子遗传研究室,418000 [2]湖南医科大学附属湘雅医院外科教研室

出　　处：《中华医学遗传学杂志》2000年第3期161-163,共3页Chinese Journal of Medical Genetics

摘　　要：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 。Objective To detect polymorphic points of the 7th intron of human p53 oncogene. Methods Polymerase chain reaction (PCR) and double strand DNA direct sequencing were used to analyse sequence alteration of p53 intron 7. One hundred and five cases of normal human peripheral blood samples with no genetic relation were investigated. Results There were two polymorphic points in the 7th intron of p53 gene. The first one was localized at 73 base pair (bp) to 3′ end of exon 7; the other one at 93. Three genotypes were found. Twenty two cases were of type TG, 37 cases were of type CT, and the other 46 cases were of heterozygote. Because the first point was alteration of GGGCCC to GGGTCC or its heterozygote, it had a point alteration of enzyme Apa Ⅰ. Conclusion There are two polymorphic points in the 7th intron of human p53 gene, which may be of importance to identification of individual genetic relation and to judging of a case in forensic medicine.

关 键 词：P53基因 内含子 多态性位点分析 肿瘤 

分 类 号：Q75[生物学—分子生物学]