昆明地区357例Gilbert综合征基因变异谱分析  

Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming

作　　者：何建萍[1] 吕梦欣 秦茂华[1] 朱丽虹[1] 党峰博[1] 孙永波[1] 罗胜军 罗兰 唐健 HE Jianping;LV Mengxin;QIN Maohua;ZHU Lihong;DANG Fengbo;SUN Yongbo;LUO Shengjun;LUO Lan;TANG Jian(Dept.of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Health Hospital,Kunming Yunnan 650031;School of Basic Medicine,Kunming Medical University,Kunming Yunnan 650041,China)

机构地区：[1]昆明市妇幼保健院医学遗传与产前诊断科,云南昆明650031 [2]昆明医科大学基础医学院,云南昆明650500

出　　处：《昆明医科大学学报》2023年第10期155-160,共6页Journal of Kunming Medical University

基　　金：云南省科技厅科技计划基金资助项目(202101BA070001-252);云南省生殖妇科疾病临床医学中心开放课题基金资助项目(2020LCZXKF-SZ19);昆明市卫生科技人才培养项目“十百千”工程培养计划基金资助项目(2020-SW(后备)-98);昆明市卫生科技人才培养项目医学技术中心建设基金资助项目(2022-SW(技)-16)。

摘　　要：目的探讨昆明地区Gilbert综合征基因变异谱情况,为该疾病机制研究提供基础数据。方法应用高通量测序技术与生物信息学研究方法,对昆明地区357例Gilbert综合征患儿基因变异谱进行分析。结果在357例Gilbert综合征患儿中检出UGT1A1基因纯合变异82例,其中c.211G>A纯合变异占93.9%;c.1091C>T纯合变异占3.7%;c.1198A>C纯合变异占2.4%。检出UGT1A1基因杂合变异275例,其中c.211G>A杂合变异占69.1%;c.1091C>T杂合变异占17.8%;c.1456T>G杂合变异占5.5%;c.1198A>C杂合变异占2.5%;c.1352C>T占1.1%;c.596C>G杂合变异占1.1%;c.1423C>T杂合变异占0.7%;c.1100G>A、c.1389G>C、c.610A>G、c.163C>T、c.715C>T、c.1021C>T杂合变异各占0.4%。结论昆明地区Gilbert综合征基因变异谱前3顺位为c.211G>A、c.1091C>T、c.1456T>G,与云南边境地区有所不同。为昆明地区非结合高胆红素血症疾病的诊断、预防及治疗提供了重要的参考依据,同时也为进一步探索非结合高胆红素血症的疾病发生机制提供了基础数据。Objective To explore the gene variation profile of Gilbert syndrome in Kunming,and to provide basic data for the mechanisms of Gilbert syndrome.Methods 357 children with Gilbert syndrome in Kunming were analyzed by high-throughput sequencing and bio-information analysis.Results Among 357 children with Gilbert syndrome,82 cases were found to have homozygous variations in the UGT1A1 gene,with c.211G>A homozygous variation accounting for 93.9%of the cases;c.1091C>T homozygous variation accounting for 3.7%of the cases;and c.1198A>C homozygous variation accounting for 2.4%of the cases.275 cases were found to have heterozygous variations in the UGT1A1 gene,with c.211G>A heterozygous variation accounting for 69.1%of the cases;c.1091C>T heterozygous variation accounting for 17.8%of the cases;c.1456T>G heterozygous variation accounting for 5.5%of the cases;c.1198A>C heterozygous variation accounting for 2.5%of the cases;c.1352C>T accounting for 1.1%of the cases;c.596C>G heterozygous variation accounting for 1.1%of the cases;c.1423C>T heterozygous variation accounting for 0.7%of the cases;and c.1100G>A,c.1389G>C,c.610A>G,c.163C>T,c.715C>T,c.1021C>T heterozygous variations each accounting for 0.4%of the cases.Conclusion The top three gene variants associated with Gilbert's syndrome in the Kunming region were c.211G>A,c.1091C>T,c.1456T>G,which were different from those found in the border areas of Yunnan.This provides important reference data for the diagnosis,prevention,and treatment of unconjugated hyperbilirubinemia in the Kunming region,and also lays the foundation for further exploration of the pathogenesis of unconjugated hyperbilirubinemia.

关 键 词：GILBERT综合征 基因变异 高通量测序 

分 类 号：R394.3[医药卫生—医学遗传学]