基因TFR2在一种新的定位到7q22的血色素沉着症中发生突变。

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

作者信息

Camaschella C, Roetto A, Calì A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P

机构信息

Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera S.Luigi, Orbassano-Torino, Italy.

出版信息

Nat Genet. 2000 May;25(1):14-5. doi: 10.1038/75534.

DOI:10.1038/75534

PMID:10802645

Abstract

Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.

摘要

血色素沉着症是一种常见的隐性疾病，其特征为铁进行性过载，这可能导致严重的临床并发症。大多数患者在6号染色体短臂上的HFE基因中存在C282Y突变的纯合子（参考文献1 - 5）。青少年血色素沉着症（HFE2）的一个基因座定位于1号染色体长臂（参考文献7）。在此，我们报告位于7q22的一个新基因座（HFE3），并表明在与HFE3基因座相关的血色素沉着症患者中发现了转铁蛋白受体2（TFR2）编码基因中的一个纯合无义突变。