Boretto J, Jouanolle A M, Yaouanq J, el Kahloun A, Mauvieux V, Blayau M, Perichon M, Le Treut A, Clayton J, Borot N
Centre d'Immunologie INSERM-CNRS, Marseille, France.
Hum Genet. 1992 Apr;89(1):33-6. doi: 10.1007/BF00207038.
Two yeast artificial chromosomes of the HLA class I region were subcloned. Four of the subclones studied displayed restriction polymorphisms that corresponded to six bi-allelic series. Allelic distribution of the anonymous markers was then studied by comparing a control population with a group of patients with familial haemochromatosis. Only one marker presents an unequivocal association with the haemochromatosis gene and is 100 kb centromeric to HLA-A. This association however is not as strong as with HLA-A3. The results suggest two possible locations for the haemochromatosis gene: less than 100 kb centromeric to the HLA-A locus, or on the telomeric side.
对HLA I类区域的两条酵母人工染色体进行了亚克隆。所研究的四个亚克隆显示出与六个双等位基因系列相对应的限制性多态性。然后，通过将对照人群与一组家族性血色素沉着症患者进行比较，研究了匿名标记的等位基因分布。只有一个标记与血色素沉着症基因存在明确关联，且位于HLA - A着丝粒侧100 kb处。然而，这种关联不如与HLA - A3的关联那么强。结果表明血色素沉着症基因可能存在两个位置：位于HLA - A基因座着丝粒侧不到100 kb处，或在端粒侧。
