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中文摘要：
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IgAl的O-糖基化异常可能无关。
英文摘要：
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.
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