1例携带 HFE 基因剪切突变的遗传性血色病患者家系调查
目的:探讨1例新型的遗传性血色病(HH)患者家系 HFE 基因突变形式。方法对确诊的1例 HH 患者分析其与5位相关亲属的血色病基因,提取血液基因组 DNA,采用 PCR 扩增相关基因 HFE、HJV、HAMP、转铁蛋白受体(TfR)2、SLC40A1的外显子、内含子剪切序列,琼脂糖凝胶电泳、纯化后,双向直接测序检测突变位点。结果先证者肝功能异常,血清铁(SI)、总铁结合力(TIBC)、铁蛋白(SF)、转铁蛋白饱和度(TS)均升高,HFE 基因外显子 EXON2的区间序列2号内含子第4个碱基出现 T→C 纯合突变(IVs 2+4T→C,C /C 纯合,splicing,异常),HJV、HAMP...
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Published in | 临床肝胆病杂志 Vol. 33; no. 1; pp. 155 - 159 |
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Main Author | |
Format | Journal Article |
Language | Chinese |
Published |
河南省人民医院 感染科,郑州,450000
2017
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Subjects | |
Online Access | Get full text |
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Summary: | 目的:探讨1例新型的遗传性血色病(HH)患者家系 HFE 基因突变形式。方法对确诊的1例 HH 患者分析其与5位相关亲属的血色病基因,提取血液基因组 DNA,采用 PCR 扩增相关基因 HFE、HJV、HAMP、转铁蛋白受体(TfR)2、SLC40A1的外显子、内含子剪切序列,琼脂糖凝胶电泳、纯化后,双向直接测序检测突变位点。结果先证者肝功能异常,血清铁(SI)、总铁结合力(TIBC)、铁蛋白(SF)、转铁蛋白饱和度(TS)均升高,HFE 基因外显子 EXON2的区间序列2号内含子第4个碱基出现 T→C 纯合突变(IVs 2+4T→C,C /C 纯合,splicing,异常),HJV、HAMP、TfR2、SLC40A1未见异常,患者儿子出现与其相同纯合突变,3位亲属存在杂合突变,1位亲属无异常突变。结论基因检测在血色病诊断中起着重要作用,HFE 基因 IVs 2+4T→C 突变可能是新型的中国HH 的致病遗传基因突变类型。 |
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Bibliography: | hemochromatosis; point mutation; genes,regulator; pedigree 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 |
ISSN: | 1001-5256 |
DOI: | 10.3969/j.issn.1001-5256.2017.01.034 |