摘要目的 研究慢性肾功能衰竭患者人类白细胞抗原(HLA)基因,以获得慢性肾功能衰竭的致病突变.方法 使用新的MHC捕获技术结合新一代高通量测序技术对15例慢性肾功能衰竭患者和15名健康对照的HLA区域基因进行捕获测序.结果 慢性肾功能衰竭的致病与HLA-A* 02∶01∶01、B*15∶01∶01和DRB1* 09∶01∶02关联,且这三个基因相互独立与慢性肾功能衰竭关联.结论 HLA-A*02∶01∶01、B* 15∶01∶01和DRB1* 09∶01∶02与慢性肾功能衰竭相关.采用MHC基因捕获技术结合下一代高通量测序技术研究慢性肾功能衰竭的基因易感性是可行的.

abstractsObjective To systematically examine the HLA region genes in patients with chronic renal failure (CRF) to get an overview of the primary predisposing genetic factors.Methods Fifteen CRF patients and 15 healthy controls were captured and sequenced in HLA region using the latest MHC gene capturing technology and the next-generation sequencing technology.Results HLA-A * 02∶01∶01,B * 15∶01∶01 and DRB1 * 09∶01∶02 displayed associations with CRF,which seemed to be independent of each other.Conclusion HLA-A * 02∶01∶01,B * 15∶01∶01 and DRB1 * 09∶01∶02 alleles display disease association.Combination of MHC gene capturing technology with high-throughput sequencing technology is plausible in studying the susceptible genes of CRF.