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β2-adrenergic receptor gene polymorphisms in normal and asthmatic individuals in the Eastern Province of Saudi Arabia

机译:沙特阿拉伯东部省正常人群和哮喘人群中β2-肾上腺素能受体基因多态性

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摘要

BACKGROUND AND OBJECTIVES:Several polymorphisms of the β2-adrenergic receptor (β2-AR) gene have been identified, including the amino acid substitution from arginine (Arg) to glycine (Gly) at codon 16 and from glutamine (Gln) to glutamic acid (Glu) at codon 27. These substitutions affect receptor function and show significantly more agonist-promoted receptor down-regulation than cells expressing the Arg 16/Gln 27 variants. Although the ethnic dependency of this polymorphism has been described in other populations, no studies investigating its relationship to asthma have been conducted in the Saudi population . Therefore, our main objective was to determine the prevalence of these two mutations among patients with asthma in the Eastern Province and in matched healthy controls.
机译:背景和目的:已经鉴定出β2-肾上腺素能受体(β2-AR)基因有多个多态性,包括第16位密码子从精氨酸(Arg)变为甘氨酸(Gly)以及从谷氨酰胺(Gln)到谷氨酸( (Glu)位于第27位密码子。这些取代影响受体功能,并且比表达Arg 16 / Gln 27变体的细胞显示出更多的激动剂促进受体下调。尽管在其他人群中已经描述了这种多态性的种族依赖性,但尚未在沙特人群中进行任何调查研究其与哮喘的关系。因此,我们的主要目的是确定东部省和相匹配的健康对照人群中这两个突变的患病率。

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