Venditti C P, Seese N K, Gerhard G S, Ten Elshof A E, Chorney K A, Mowrey P N, Lacey P G, Knoll J H, Chorney M J
Department of Microbiology and Immunology, Pennsylvania State University College of Medicine, Milton S Hershey Medical Center, Hershey 17033, USA.
J Med Genet. 1997 Jan;34(1):24-7. doi: 10.1136/jmg.34.1.24.
Hereditary haemochromatosis (HFE) is a recessive genetic disease of iron overload which has been shown by linkage analysis to reside on the short arm of chromosome 6, close to the major histocompatibility complex (MHC). Positional cloning of the putative HFE locus has been hampered, in part, by the lack of a structural alteration on 6p. In this report, we describe a pedigree with HFE which carries a balanced paracentric inversion of chromosome 6, inv(6)(p21.1p23), a rarely reported chromosomal rearrangement in this region. We have determined the inheritance of the chromosome harbouring the inversion, which segregates as an HFE chromosome. Because the HFE locus has been mapped distal to the HLA-F class I locus at 6p21.3, the breakpoints associated with this chromosomal rearrangement may provide a significant genomic landmark for positional cloning of the HFE gene.
遗传性血色素沉着症（HFE）是一种铁过载的隐性遗传病，连锁分析表明其位于6号染色体短臂上，靠近主要组织相容性复合体（MHC）。由于6号染色体短臂上缺乏结构改变，推测的HFE基因座的定位克隆受到了一定阻碍。在本报告中，我们描述了一个患有HFE的家系，该家系携带6号染色体的平衡臂内倒位，inv(6)(p21.1p23)，这是该区域罕见报道的染色体重排。我们确定了携带倒位的染色体的遗传方式，它作为HFE染色体进行分离。由于HFE基因座已被定位到6号染色体短臂21.3区的HLA-F I类基因座远端，与这种染色体重排相关的断点可能为HFE基因的定位克隆提供重要的基因组标记。
