山东医药2018，Vol.57Issue(7)：14-17,4.DOI:10.3969/j.issn.1002-266X.2018.07.004
中国汉族家系痛风患者 β3肾上腺素受体基因突变观察
Observation of β3 adrenoceptor gene mutations in Chinese Han familial gout patients
摘要
Abstract
Objective To observe the β3 adrenoceptor(ADRB3)gene mutations in Chinese Han familial gout pa-tients,and to analyze the relationship between the new mutations and genetic susceptibility to familial gout.Methods DNA was collected from 500 patients from different families confirmed with primary familial gout and 500 healthy subjects (control group).The exons,3′,5′-untranslated regions and intron-exon boundaries of ADRB3 were amplified by polymer-ase chain reaction and the products were sequenced directly.The pedigree with ADRB3 mutations was analyzed.Results Through direct sequencing,a novel heterozygous mutation located in 3′-untranslated region(3′-UTR)of ADRB3:c.*660C>T was observed in six gout patients of two gouty families.The novel mutation was not found in the control group and was not reported in other studies.Five patients in one pedigree all carried ADRB 3 3′-UTR mutation c.*660C>T,while the healthy relatives did not have this mutation.Conclusion We find 3′-UTR mutation of ADRB3 in two Chinese gouty families,which may be the pathogenicity mutation of a Chinese pedigree with primary familial gout.关键词
痛风/家系痛风/β3肾上腺素受体基因/基因突变Key words
gout/familial gout/β3 adrenoceptor gene/gene mutation分类
医药卫生引用本文复制引用
孙雅奇,刘世国,贺玉伟,李长贵..中国汉族家系痛风患者 β3肾上腺素受体基因突变观察[J].山东医药,2018,57(7):14-17,4.基金项目
国家自然基金资助项目(81770869). （81770869）
