Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene

被引：21

作者：

Liu, WD ^{[1
]}

Shimomura, S ^{[1
]}

Imanishi, H ^{[1
]}

Iwamoto, Y ^{[1
]}

Ikeda, N ^{[1
]}

Saito, M ^{[1
]}

Ohno, M ^{[1
]}

Hara, N ^{[1
]}

Yamamoto, T ^{[1
]}

Nakamura, H ^{[1
]}

Hada, T ^{[1
]}

机构：

[1] Hyogo Med Univ, Dept Internal Med, Div Hepatobiliary & Pancreat Dis, Nishinomiya, Hyogo 6638501, Japan

来源：

INTERNAL MEDICINE | 2005年 / 44卷 / 04期

关键词：

hemochromatosis; ferroportin; 1; iron responsive element; siderosis; point mutation;

D O I：

10.2169/internalmedicine.44.285

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The HFE, H ferritin, TFR2, and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced. A novel mutation in the ferroportin 1 was found in the patient. It was located in the noncoding region of the ferroportin 1; nucleotide 117 adenine was changed to guanine, 7 nucleotides downstream the iron responsive element (IRE) region. This mutation was not found in the patient's son or daughter, or in 50 healthy individuals. It was suggested that the mutation in the ferroportin I may be related to hemochromatosis of this patient.

引用

页码：285 / 289

页数：5

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