3个携带HJV E3D变异的遗传性血色病家系临床表型分析  

Clinical phenotype analysis on the mutation of HJV E3D gene in 3 Chinese families with hereditary hemochromatosis

作　　者：张伟[1] 吕婷霞 李艳萌[2] 王晓明[1] 赵新颜[1] 王宇[1] 徐安健[2] 李潇瑾 黄坚[2] 欧晓娟[1] 

机构地区：[1]首都医科大学附属北京友谊医院肝病中心,首都医科大学少见、罕见肝病临床诊疗与研究中心,国家消化系统疾病临床医学研究中心,100050 [2]首都医科大学附属北京友谊医院实验中心,100050

出　　处：《肝脏》2017年第7期585-589,共5页Chinese Hepatology

基　　金：国家科技支撑计划课题(2015BAI13B09)

摘　　要：目的了解3个携带HJV E3D变异的遗传性血色病家系基因变异及临床表型特点。方法 3个遗传性血色病家系中的先证者均完成了病史采集、铁指标、肝功能、腹部核磁检查、肝活检,排除铁过载的继发性原因,临床考虑为遗传性血色病。先证者及其一级亲属分别检测目前已知的遗传性血色病相关的5个基因(HFE、HAMP、HJV、TFR2和SLC40A1)。结果 3个携带HJV E3D变异的遗传性血色病先证者均具有明确的铁过载表现,家系1和家系2中各有1个成员具有铁过载。2例携带HJV E3D变异的先证者还同时携带其他类型血色病基因变异。结论 HJV基因E3D变异可能为我国遗传性血色病的热点变异,可能需要同时伴随其他位点变异才会出现表型,且男性、年龄增加更容易出现血色病表型。Objective To investigate the relationship between HJV E3 D variation and clinical phenotype from 3Chinese families with hereditary hemochromatosis(HH).Methods To exclude secondary causes of iron overload and clinically diagnose HH,medical history,iron studies,liver function test,magnetic resonance imaging of liver and liver biopsy were performed in 3 probands from the 3 families.Blood samples of the 3 probands and their families were collected for genomic DNA extraction,and then subjected for sequence analysis on mutations of common HH-related genes(HFE,HAMP,HJV,TFR2 and SLC40A1)was performed.Results Three probands of HH were manifested with obvious iron overload,and 2 members from2 families also showed iron overload.Additionally,2 probands carried other HH-related genes besides HJV E3 D.Conclusion HJV E3 D might be the hotspot mutation of Chinese patient with HH.Its combination with other HH-related mutations may be necessary for emergency of HH.Moreover,the prevalence of HH increases with advanced age in male.

关 键 词：血色病 HJV基因 表型 家系分析 

分 类 号：R596[医药卫生—内科学]