Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis
文献类型：期刊论文
| 作者 | Wang, Yongwei1,2; Du, Yali3,4; Liu, Gang2,5; Guo, Shanshan2; Hou, Bo4,6; Jiang, Xianyong3,4; Han, Bing3,4; Chang, Yanzhong1; Nie, Guangjun2 |
| 刊名 | International journal of hematology
 |
| 出版日期 | 2017-04-01 |
| 卷号 | 105期号:4页码:521-525 |
| 关键词 | Hereditary hemochromatosis Chinese patients Novel mutations |
| ISSN号 | 0925-5710 |
| DOI | 10.1007/s12185-016-2150-8 |
| 通讯作者 | Han, bing(hanbing_li@sina.com) ; Chang, yanzhong(chang7676@163.com) ; Nie, guangjun(niegj@nanoctr.cn) |
| 英文摘要 | Hereditary hemochromatosis (hh) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (hfe), hemojuvelin (hjv/hfe2), hepcidin (hamp), transferrin receptor 2 (tfr2), and ferroportin (fpn1/slc40a1) proteins, and the clinical features are well described. however, there have been only a few detailed reports of hh in chinese populations. thus, there is insufficient patient information for population-based analyses in chinese populations or comparative studies among different ethical groups. in the current work, we describe eight chinese cases of hereditary hemochromatosis. gene sequencing results revealed eight mutations (five novel mutations) in hfe, hfe2, tfr2, and slc40a1 genes in these chinese hh patients. in addition, we used polymorphism phenotyping v2 (polyphen), sorting intolerant from tolerant (sift), and a sequence alignment program to predict the molecular consequences of missense mutations. |
| WOS关键词 | IRON OVERLOAD ; IREG1 |
| WOS研究方向 | Hematology |
| WOS类目 | Hematology |
| 语种 | 英语 |
| WOS记录号 | WOS:000398453600017 |
| 出版者 | SPRINGER JAPAN KK |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2177781 |
| 专题 | 高能物理研究所 |
| 通讯作者 | Han, Bing; Chang, Yanzhong; Nie, Guangjun |
| 作者单位 | 1.Hebei Normal Univ, Coll Life Sci, Lab Mol Iron Metab, Shijiazhuang 050024, Hebei, Peoples R China 2.CAS Ctr Excellence Nanosci, Natl Ctr Nanosci & Technol, CAS Key Lab Biomed Effects Nanomat & Nanosafety, 11 Beiyitiao, Beijing 100190, Peoples R China 3.Chinese Acad Med Sci, Dept Hematol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China 4.Peking Union Med Coll, Beijing 100730, Peoples R China 5.NICHHD, Sect Human Iron Metab, NIH, Bethesda, MD 20892 USA 6.Chinese Acad Med Sci, Dept Radiol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China |
| 推荐引用方式 GB/T 7714 | Wang, Yongwei,Du, Yali,Liu, Gang,et al. Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis[J]. International journal of hematology,2017,105(4):521-525. |
| APA | Wang, Yongwei.,Du, Yali.,Liu, Gang.,Guo, Shanshan.,Hou, Bo.,...&Nie, Guangjun.(2017).Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis.International journal of hematology,105(4),521-525. |
| MLA | Wang, Yongwei,et al."Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis".International journal of hematology 105.4(2017):521-525. |
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来源：高能物理研究所
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