摘要
目的研究β2肾上腺能受体(β2-adrenergic receptor,β2AR)基因单倍型与慢性心力衰竭的关系。方法选取南方汉族92例心衰患者和80名健康对照,进行外周静脉血的DNA抽提,通过聚合酶链反应扩增后,进行β2AR基因的测序,对所得出的单核苷酸多态性位点进行单倍型分析。结果发现β2AR基因有4个单核苷酸多态性位点,分别为:16Arg/Gly2、7Gln/Glu、87Leu A/G、178Arg A/C;其中病例组中16G-27C-87G单倍型频率明显降低,两组间的差异有显著性(P<0.01);而其他的单倍型在两组间的差异无显著性(P>0.05)。结论南方汉族人群中β2AR基因多态性与心衰密切相关,其中16G-27C-87G单倍型可能为保护性连锁单倍型,是心衰的抗病单倍型。
Purpose To investigate the association between the β2-adrenergic receptor （β2AR） gene haplotype and chronic heart failure （CHF） in southern Chinese Han population. Methods Genomic DNA was extracted from blood leukocytes from patients with CHF （n = 92） and from healthy controls （n = 80）. The part of the β2 AR gene was amplified by polymerase chain reaction and analysed by automated sequencing. The resulting single nucleotide polymorphisms （SNPs） were all analysed by haplotype analysis. Results There were four SNPs of 132AR gene： 16Arg/Gly, 27Gln/Glu, 87LeuA/G and 178ArgA/C. The haplotype analysis showed the frequency of 16G-27C-87G in CHF patients was significantly decreased as compared with controls （P〈0.01）. There were no significant difference between two groups of other haplotypes （P〉0.05）. Conclusions The β2AR gene polymorphisms was associated with CHF in southern Chinese Han population, and the 16G-27C-87G is probably a protecting haplotype of CHF.
出处
《复旦学报（医学版）》
CAS
CSCD
北大核心
2006年第2期153-156,共4页
Fudan University Journal of Medical Sciences
基金
国家"十五"攻关课题(2001BA703D15)项目资助
