Observation of β3 adrenoceptor gene mutations in Chinese Han familial gout patients
SUN Yaqi
LIU Shiguo
HE Yuwei
LI Changgui
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.
Keywords：goutfamilial goutβ3 adrenoceptor genegene mutation
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 14-17 )