临床肝胆病杂志2017，Vol.33Issue(1)：155-159,5.DOI:10.3969/j.issn.1001-5256.2017.01.034
1例携带 HFE 基因剪切突变的遗传性血色病患者家系调查
A family with hereditary hemochromatosis carrying HFE gene splice site mutation:a case report
摘要
Abstract
Objective To investigate a new type of HFE gene mutation in a family with hereditary hemochromatosis (HH).Methods The analysis of HFE gene was performed for one patient with a confirmed diagnosis of HH and five relatives.Blood genomic DNA was extracted and PCR multiplication was performed for the exon and intron splice sequences of related HFE,HJV,HAMP,transferrin receptor 2 (TfR2),and SLC40A1 genes.After agarose gel electrophoresis and purification,bi -directional direct sequencing was performed to detect mutation sites.Results The proband had abnormal liver function and increases in serum iron,total iron binding capacity,serum ferritin, and transferrin saturation,as well as T→C homozygous mutation in the fourth base of intron 2 in the intervening sequence of the exon EXON2 of HFE gene (IVs 2 +4T→C,C /C homozygous,splicing,abnormal).There were no abnormalities in HJV,HAMP,TfR2,and SLC40A1 genes.The proband′s son had the same homozygous mutation,three relatives had heterozygous mutations,and one relative had no abnormal mutations.Conclusion Gene detection plays an important role in the diagnosis of hemochromatosis,and IVs 2 +4T→C mutation may be a new pathogenic mutation for HH in China.关键词
血色素沉着症/点突变/基因,调节/系谱Key words
hemochromatosis/point mutation/genes,regulator/pedigree分类
医药卫生引用本文复制引用
宁会彬,何佳,李俊利,刘俊平,肖二辉,尚佳..1例携带 HFE 基因剪切突变的遗传性血色病患者家系调查[J].临床肝胆病杂志,2017,33(1):155-159,5.基金项目
国家临床重点专科建设项目（2013年度）；河南省卫生厅科技攻关计划项目基金资助项目 （）
