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中国北方汉族人群支气管哮喘患者β_2肾上腺素能受体基因多态性研究 被引量:17

Study on β_2 adrenergic receptor genetic polymorphisms in asthmatics in the people of the Han nationality of northern China
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摘要 目的 探讨中国北方汉族人群 β2 肾上腺素能受体 (β2 AR) 16、2 7和 16 4位点基因多态性与支气管哮喘的相关性。方法 采用等位基因特异性聚合酶链反应 (PCR)方法 ,对 5 8例哮喘缓解期患者进行 β2 AR基因多态性分析检测 ,并与 89名正常者进行对照。结果  (1)中国北方汉族人群 β2AR基因 16、2 7、16 4位点多态性分布频率与英美高加索人群不同 ;(2 )哮喘组人群β2 AR基因 16位点多态性分布频率显示 ,精氨酸 /精氨酸基因型占 2 4% ,精氨酸 /甘氨酸基因型占 45 % ,甘氨酸 /甘氨酸基因型占 31% ,后者与正常对照组比较 ,比数比 (OR)为 4 0 ,95 %可信限 (CI)为 1 7~ 9 7,差异有显著性(P <0 0 1) ,而等位基因频率与正常对照组比较 ,差异无显著性 (P >0 0 5 )。另外结果还显示 ,β2 AR基因 16位点多态性与哮喘病情严重程度有关联 ,甘氨酸 /甘氨酸基因型在重度哮喘组中所占比与轻度哮喘组和中度哮喘组比较 ,差异有显著性 (P <0 0 5 )。结论 我国北方汉族人群中 β2 AR基因 16位点多态性与支气管哮喘相关联。 Objective To analyze the association between β 2 AR genetic polymorphism and asthma in the people of the Han nationality of northern China.Methods Allele Specific PCR techniques were used to determine 16、27 and 164 locus alleles of β 2 AR genetic polymorphisms in 58 unrelated patients with asthma and 89 healthy controls from the people of the Han nationality of northern China.Results (1) The distribution frequency of genotype β 2 AR 16 loci:Arg/Arg genotype accounts for 13%, Arg/Gly 76% and Gly/Gly 11% The β 2 AR 27 loci:Gln/Gln genotype accounts for 36%,Gln/Glu 55% and Glu/Glu 9% The β 2 AR 164 loci:Thr/Thr genotype accounts for 30%,Thr/Ile 53% and Ile/Ile 17% (2)The frequency of genotype β 2 AR 16 loci in asthmatics: Arg/Arg genotype accounts for 24%, Arg/Gly 45% and Gly/Gly 31% There was a significant increase in the frequency of Gly/Gly genotype in asthmatics compared with healthy group(OR=4 0,95% CI 1 7~9 7),but there was no significant difference in the allele frequency of asthmatics compared with healthy group The frequency of genotype β 2 AR 27 loci in asthmatics: Gln/Gln genotype accounts for 34%, Gln/Glu 56% and Glu/Glu 10%. There was no significant difference in the allele frequency of asthmatics compared with healthy group The frequency of genotype β 2 AR 164 loci in asthmatics: Thr/Thr genotype accounts for 10%,Thr/Ile 83% and Ile/Ile 7% There was no significant difference in the frequency of Ile/Ile genotype in asthmatics compared with healthy group, and in the allele frequency of asthmatics compared with healthy group In addition , our study reveals that β 2 AR 16 locus genetic polymorphism is in association with asthmatic severity Conclusions These results suggest that β 2 AR 16 locus genetic polymorphism is correlated with asthma severity in the people of the Han nationality of northern China
出处 《中华结核和呼吸杂志》 CSCD 北大核心 2000年第2期93-97,共5页 Chinese Journal of Tuberculosis and Respiratory Diseases
关键词 哮喘 肾上腺素能受体 基因多态性 Β2AR Asthma β 2 adrenergic receptor Genetic polymorphism
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