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.
Department of Endocrinology, Chengdu Office Hospital, The People's Government of the Tibet Autonomous Region, Chengdu 610044, Sichuan Province, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Apr;27(2):618-622. doi: 10.19746/j.cnki.issn.1009-2137.2019.02.050.
The explore the molecular basis of iron-overload in Tibet nationality population of Tibet.
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 mutation-negative 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).
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.
Currently, the pathogenic gene for Tibetan iron-overload has not yet been found.
探讨西藏藏族人群铁过载的分子基础。
选取2014年12月1日至2016年7月31日在我科住院的铁过载患者纳入本研究。检查腹部MRI及HFE外显子中的突变位点C282Y和H63D。对于HFE突变阴性患者，检测非HFE突变，包括G320V、p.Q312X、p.D249H、p.I281T、p.C321X这5种HJV突变以及2种TFR2突变：（Y250X、I238M），还有2种SLC40A1突变：（V162del、N144H）。
113例铁过载患者中，仅1例显示纯合子p.H63D突变，1例显示杂合子p.H63D突变。在73例接受非HFE基因检测的患者中，仅1例为HJV基因杂合子p.D249N突变，1例为TFR2基因杂合子p.I238M突变。
目前，尚未发现藏族铁过载的致病基因。
