β_2-肾上腺素能受体基因多态性与重庆汉族儿童哮喘关联的初步研究

Preliminary Study on the relationship between β_2－adrenergic receptors genetic polymor- phisms and asthma in children of Han nationality of Chongqing

目的 探讨β２－肾上腺素能受体（β２－ＡＲ）第１６、２７位点基因多态性与重庆汉族儿童哮喘的关联。方法 采用ＰＣＲ－限制性核酸内切酶分析法对５０例哮喘儿童缓解期β２－ＡＲ１６、２７位基因多态性进行检测，并与５０例健康儿童及５０例健康成人进行对照。结果①健康人群对照组β２－ＡＲ第１６、２７位点突变纯合子频率为０．１９、０．１２，突变等位基因频率为０．４２、０．３０。②哮喘组儿童β２－ＡＲ第１６、２７位点突变纯合子频率为０．２２、０．０８，突变等位基因频率为０．４９、０．２８，与健康人群对照组比较差异均无显著性（Ｐ＞０．０５）。③β２－ＡＲ第１６位突变纯合子及突变等位基因频率在重度组为０．６７、０．７８，分别与轻度（０．０７、０．３０）、中度（０．１２、０．５０）哮喘组比较，差异有显著性（Ｐ＜０．０５）。结论 β２－ＡＲ第１６、２７基因多态性与本研究范围内哮喘儿童发病无关联，但１６位点基因多态性与哮喘病情严重度相关联。

Objective To investigate genotypes and alleles frequency of β2-adrenergic receptors(β2-AR) 16, 27 loci in asthmatic children in the Han nationality of Chongqing and analyzed the relation between β2-Argenetic polymorphisms and the severity of asthma. Methods PCR and restric- tion fragment analysis were used to detect 16,27 locus of the β2-AR genetic polymorphisms in 50 children with asthma at remission stage and 50 healthy children control and 50 healthy adults from the Han nationality of Chongqing. Results ①The distribution frequency of genotypes and alleles the β2-AR16, 27loci in the people of the Han nationality of Chongqing: Gly/Gly 0. 19. The β2-AR27 loci: Glu/Glu 0. 12, and Gly 16 allele 0.42, Glu27 allele 0.30.There were significant increase in the frequency of Gly/Gly genotype and Gly allele in the severe asthma than the mild, moderate asthmatic children of the Han nationality of Chongqing. Conclusion The β2-AR16, 27 loci genetic were not determinant of patho- genesis of asthmatic children in the Han nationality of Chongqing, and the β2-AR 16 locus genetic polymorphisms is correlated with the severity of asthma in the children of the Han nationality of Chongqing.