线粒体nt 16189多态性与遗传性血色素沉着症。
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis.
作者信息
Beutler Ernest, Beutler Lisa, Lee Pauline L, Barton James C
机构信息
Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA.
出版信息
Blood Cells Mol Dis. 2004 Nov-Dec;33(3):344-5. doi: 10.1016/j.bcmd.2004.06.006.
It has been claimed that a noncoding mitochondrial polymorphism at nt 16189 is correlated with the penetrance of the homozygous state for the C282Y mutation of the HFE gene. We have genotyped homozygotes for the C282Y mutation and find no relationship between the ferritin levels and the inheritance of the mitochondrial polymorphism. Indeed, the small difference found is in the opposite direction of that reported previously.
有人声称，核苷酸16189处的非编码线粒体多态性与HFE基因C282Y突变纯合状态的外显率相关。我们对C282Y突变的纯合子进行了基因分型，发现铁蛋白水平与线粒体多态性的遗传之间没有关系。事实上，所发现的微小差异与之前报道的方向相反。
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