西藏藏族铁过载患者HFE基因及非HFE基因的突变研究  

Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload

作　　者：孙舒瑶 郭彦宏 孙曾梅 邬云红 李明霞 SUN Shu-Yao;GUO Yan-Hong;SUN Zeng-Mei;WU Yun-Hong;LI Ming-Xia(Department of Endocrinology,Chengdu Office Hospital,The People's Government of the Tibet Autonomous Region,Chengdu 610044,Sichuan Province,China)

机构地区：[1]西藏自治区人民政府驻成都办事处医院内分泌科,四川成都610044

出　　处：《中国实验血液学杂志》2019年第2期618-622,共5页Journal of Experimental Hematology

基　　金：成都市卫计委课题(2015031);成都市卫计委课题(2017007)

摘　　要：目的:探讨西藏藏族人群铁过载的分子基础。方法:筛选自2014年12月-2016年7月在我科住院治疗的西藏藏族居民,选取其中存在有铁过载的患者,行腹部MRI及HFE基因位点C282Y、H63D检测,对有HFE突变阴性的患者,再进一步行非HFE基因常见突变位点的检测,包括HJV基因的G320V、p.Q312X、p.D249H、p.I281T、p.C321X,TFR2基因的Y250X和I238M及SLC40A1基因的V162del、N144H。结果:全部113人行HFE基因位点C282Y、H63D检测中,仅发现1例p.H63D纯合型和10例p.H63D杂合型;在同意行非HFE基因检测的73例患者中,仅发现1例HJV p.D249N杂合突变、1例TFR2 p.I238M杂合突变。结论:目前尚未查见导致西藏藏族铁过载的致病基因。Objective:The explore the molecular basis of iron-overload in Tibet nationality population of Tibet.Methods:The inpatients with iron-overload in our department from Dec.1st 2014 to Jul.31st 2016 were enrolled in this study.Abdominal MRI and the mutation sites C282Y and H63D in HFE exon were examined.For HFE mutationnegative patients,the non-HFE mutation was detected,including 5 HJV mutations of G320V,p.Q312X,p.D249H,p.I281T,p.C321X and 2 TFR2 mutations:(Y250X,I238M),and 2 SLC40A1 mutations:(V162del,N144H).Results:Among 113 iron overload patients,only one showed homozygous p.H63D mutation,and one showed heterozygosis p.H63D mutation.In 73 patients accepted non-HFE gene detection,only one was heterozygosis p.D249N mutation in HJV,and one was heterozygosis p.I238M mutation in TFR2.Conclusion:Currently,the pathogenic gene for Tibetan iron-overload has not yet been found.

关 键 词：铁过载 HFE基因 非HFE基因 西藏藏族 基因突变 

分 类 号：R596.1[医药卫生—内科学]