Aiolos基因exon 8+488C/T多态性与支气管哮喘的相关性

Relationship between polymorphism of Aiolos exon 8+488C/T and bronchial asthma

目的检测汉族人造血细胞特异性锌指样转录因子Aiolos基因第8外显子488C/T(exon 8+488C/T)单核苷酸多态性(SNP)在汉族人群中的分布频率,探讨其与支气管哮喘易感性的关系。方法运用PCR-双脱氧末端终止法的DNA测序技术,检测哮喘患者(n=96)和健康人(n=86)的SNP,计算基因型频率和等位基因频率。结果哮喘人群exon 8+488位CC、CT和TT基因型频率分别是63.5%、30.2%、6.3%;健康人群基因型频率分别为57.0%、38.4%、4.7%,哮喘组与对照组各基因型分布频率比较无统计学差异(P>0.05)。汉族哮喘人群exon 8+488位C、T等位基因频率分别为78.6%、21.4%,健康人群基因频率分别为76.2%、23.8%,两组等位基因频率比较无统计学差异(P>0.05)。结论Aiolos基因exon 8+488C/T位点在汉族人中存在CC、CT和TT多态性;exon 8+488C/T多态性与支气管哮喘不存在相关性。

Objective To investigate the distribution frequency of single nucleotide polymorphism（SNP） of 488 site in the exon 8 in transcription factor Aiolos gene, and explore its relationship with allergic asthma in a population of Hans in China. Methods SNP was detected by sequencing relevent polymerase chain reaction （PCR） products in 96 subjects with atopic asthma and 86 healthy controls. The genotype and allelic frequencies were calculated and analyzed. Results The frequencies of genotype（ CC, CT and TF） in exon 8 ＋488 polymorphism were 63.5% , 30.2% and 6.3% , respectively in the asthma population and 57.0% , 38.4% and 4.7% , respectively in the healthy population. The frequencies of alleles （ exon 8 ＋488C, T） were 78.6% and 21.4% respectively in the asthma subjects and 76.2% and 23.8% respectively in the controls. No significant difference was observed in the genotype and allele frequency between the two groups （P 〉 0.05）. Conclusion The exon 8 ＋ 488C/T polymorphism of Aiolos gene exists in this population of Han ethnics, however, it is not associated with bronchial asthma.