【摘要】 目的研究白细胞介素-2基因(IL-2)启动子区-330T/G和第一外显子+114G/T单核苷酸多态性(SNP)在中国成都地区汉族及泰国曼谷地区正常人群的分布。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测130例成都地区汉族人和105例曼谷地区泰国人IL-2基因-330、+114位点的多态性,并结合文献进行不同种族间的分析比较。结果在中国成都汉族人群中IL-2基因-330位点TT、TG和GG基因型频率分别为36.9%、53.9%和9.2%,在泰国人群中分别为40.9%、39.1%和20.0%;中国成都汉族人群IL-2基因+114位点GG、GT和TT基因型频率分别为20.8%、55.8%和23.3%,泰国人群分别为50.5%、39.0%和10.5%;两位点基因型分布频率在两群体中的差异具有统计学意义(P均<0.05)。与泰国、日本、西班牙等人群相比较,成都地区汉族正常人群除IL-2基因+114位点多态性与日本人群相近外(P>0.05),其-330、+114位点的基因型频率与其他国家人群的差异具有统计学意义(P均<0.05)。结论IL-2基因-330、+114位点的SNP在不同种族间的分布存在明显的差异。这种差异可能是导致一些疾病在不同种族、不同地区间的发生、转归和预后不同的遗传因素之一。更多还原

【Abstract】 Objective To investigate the polymorphisms of interleukin-2 (IL-2) gene at position -330 in the promoter region and +114 in the first exon, and to study the polymorphism distribution difference between the Chinese Han and Thai ethnic groups. Methods Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, authors detected the single nucleotide polymorphisms at position -330T/G and +114G/T in IL-2 genes of 130 healthy Chinese Han and 105 healthy Thai individuals. Results The frequency of TT genotype in IL-2 gene at position -330 was 36.9% in Chinese Han or 40.9% in Thai population. The frequency of TG genotype was 53.9% in Chinese Han or 39.1% in Thai population. The frequency of GG genotype was 9.2% in Chinese Han or 20.0% in Thai population. The frequencies of +114 GG, GT and TT genotypes were 20.8%, 55.8% and 23.3% respectively in Chinese Han, but 50.5%, 39.0% and 10.5% respectively in Thai population. The genotype frequencies of -330 and +114 were significantly different between Chinese Han and Thai population (P<0.05). The genotype frequencies of -330 in Chinese Han were significantly different from those in Thai, Japanese and Spain ethnic groups (P>0.05). The polymorphisms of +114 in Chinese Han were significantly different from those in Thai and Spain (P<0.05), but were similar with that in Japanese (P>0.05). Conclusion IL-2 gene polymorphism in some different populations is significantly different. These differences may be one of the genetic factors contributing to the different pathogenesis, progress and prognosis in some diseases happening among ethnics or regions.更多还原