维吾尔族支气管哮喘患儿白三烯C4合成酶基因多态性分析

目的:分析白三烯C4合成酶(LTC4S)基因A-444C位点基因型和等位基因在新疆维吾尔族支气管哮喘患儿中的分布频率,并比较其与不同种族支气管哮喘患儿间的分布差异,为制定维吾尔族支气管哮喘患儿哮喘个体化用药方案提供依据。方法:采用荧光染色原位杂交方法检测190例维吾尔族支气管哮喘患儿的LTC4S A-444C基因多态性,并与国内外不同种族支气管哮喘患儿的该位点基因多态性进行比较,分析基因型频率和等位基因频率间是否存在差异性。结果:190例新疆维吾尔族支气管哮喘患儿中,LTC4S A-444C三种基因型CC、AC和AA的分布频率分别为6.8%、49.0%和44.2%;A、C等位基因频率分别为68.7%、31.3%。维吾尔族支气管哮喘患儿LTC4S A-444C的基因型、等位基因频率与韩国、澳大利亚及中国东北地区汉族支气管哮喘患儿均差异均有统计学意义(P<0.05)。结论:新疆维吾尔族支气管哮喘患儿LTC4S A-444C的基因型与等位基因的分布频率与国内外不同种族支气管哮喘患儿存在较大差异性。通过此研究,可以指导维吾尔族支气管哮喘患儿临床个体化用药,使哮喘临床用药更具有针对性、高效性和安全性。

Polymorphism Analysis of Leukotriene C4 Synthase Gene in Uygur Children with Bronchial Asthma

Objective: To analyze the distribution of genotype and allele frequencies of leukotriene C4 synthetase (LTC4S) gene A-444C in Uygur children with bronchial asthma, and to compare the distribution differences in children with bronchial asthma from different ethnic groups, so as to provide basis for the development of individualized asthma medication program for Uygur children with bronchial asthma. Methods: LTC4S A-444C genotype was detected by fluorescence in-situ hybridization in 190 cases of Uygur children with bronchial asthma. The genotype of 190 cases of Uygur children with bronchial asthma was compared with other children with bronchial asthma from different ethnic groups at home and abroad, then the difference in genotype and allele frequencies were analyzed. Results: Of the 190 cases of Uygur children with bronchial asthma, the distribution frequencies of LTC4S A-444C of CC, AC and AA genotype were respectively 6.8%, 49.0% and 44.2%, the allele frequencies of A and C were respectively 68.7% and 31.3%. The genotype and allele frequencies of LTC4S A-444C in Uygur children with bronchial asthma were significantly different from those children with bronchial asthma from Korean, Australian and the northeast of China (P<0.05). Conclusion: The genotype and allele frequencies of LTC4S A-444C in Uygur children with bronchial asthma is quite different from those of children with bronchial asthma from different ethnic groups at home and abroad. This study can guide the clinical individualized medication of children with Uighur bronchial asthma, and make the clinical medication of asthma more targeted, efficient and safer.