遗传性血色素沉着症中靠近HFE基因的重组事件。

A recombination event close to HFE gene in hereditary hemochromatosis.

作者信息

Roetto A, Sbaiz L, Bosio S, Piperno A, Fargion S, Carella M, Totaro A, Grifa A, Gasparini P, Camaschella C

机构信息

Dipartimento di Scienze Biomediche e Oncologia Umana, Ospedale San Luigi Gonzaga, Università di Torino, Italy.

出版信息

Ann Genet. 1997;40(3):150-3.

PMID:9401103

Abstract

A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.

摘要

遗传性血色素沉着症（HFE）的一个候选基因最近已从6号染色体短臂上HLA - A端粒方向4厘摩的区域克隆出来。这个被定义为HFE的基因在大部分HFE患者中发生了突变。由于在该基因周围观察到连锁不平衡的扩展区域以及该DNA区域重组事件的罕见性，HFE的定位克隆一直很困难。在这里，我们描述了一名意大利HFE患者发生的一次交换，该交换发生在D6S2221和D6S2240 - D6S2238标记之间的一个受限区间内，靠近HFE基因。对这一事件的分子分析以及该家族中HFE突变的分离情况与HFE基因位于D6S2221端粒方向的位置一致。