IgA肾病患者核心1β3-半乳糖基转移酶基因编码区序列分析

The sequence analysis of core 1 β3-Galactosyltransferase gene coding region in IgA nephropathy

目的:测定核心1β3-半乳糖基转移酶基因的DNA序列,试图在IgA肾病(IgAN)患者中发现该基因编码区DNA序列的异常。方法:应用双脱氧末端终止DNA测序技术,对核心1β3-半乳糖基转移酶基因外显子的PCR扩增产物进行直接测序,通过病例-对照研究方法,比较IgA肾病患者(50例)和正常对照(50例)之间核心1β3-半乳糖基转移酶基因组序列之间的差异。结果:两者的核心1β3-半乳糖基转移酶基因编码区序列无差异。结论:未发现IgA肾病患者有核心1β3-半乳糖基转移酶基因序列的异常,提示该基因编码区与IgA肾病患者IgA1的O-糖基化异常可能无关。

Objective：To sequence core 1β3-Galactosyltransferase gene in order to sought an abnormality in coding region sequence of the sequence in IgA nephropathy（IgAN）. Methods：We used dideoxy-sequencing of the PCR-amplified exons of core 1β3-Galactosyltransferase gene to compare the sequences in IgA nephropathy （50 patients ） and controls （50 persons ）.Results：The sequence of core 1 133-Galactosyltransferase gene coding region was identical in IgAN and controls. Conclusion.We found no abnormality in coding region sequence of core 1β3-galactosyltransferase gene, suggesting that this coding region probably not contribute to the decreased activity of core 1β3-galactosyltransferase.