Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis.
Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis.
复制标题
突变 C282Y 和 MseI 多态性之间的连锁不平衡在血色病人群筛查和 DNA 诊断中的意义。
DOI：
10.1006/bcmd.1999.0250
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
M. Kotze
中科院分区：
文献类型：
--
作者：
J. D. de Villiers;M. Kotze
越来越多的研究表明，在发现常见遗传性血色素沉着病（HH）突变C282Y纯合子的受试者中缺乏表型表达。在这项研究中，研究人员在南非研究对象中调查了由于在HFE基因的内含子4中发现MseI多态性而可能高估C282Y纯合性的影响。利用改良的聚合酶链反应（PCR）为基础的分析强调了基因型/表型相关性研究的潜在意义，特别是在普通人群中。错型而不是缺乏疾病关联为C282Y纯合性无铁超载现象提供了一个合理的解释。在这些病例中重新评估C282Y突变状态可能导致HH的合理人群筛查。
An increasing number of studies demonstrate a lack of phenotypic expression in subjects found to be homozygous for the common hereditary hemochromatosis (HH) mutation, C282Y. In this study the impact of possible overestimation of C282Y homozygosity, as a consequence of a MseI polymorphism identified in intron 4 of the HFE gene, was investigated in South African subjects. Utilization of a modified polymerase chain reaction (PCR)-based assay highlighted the potential implications with respect to genotype/phenotype correlation studies, particularly in the general population. Mistyping rather than lack of disease association provides a plausible explanation for the phenomenon of C282Y homozygosity without iron overload. Reassessment of C282Y mutation status in such cases may result in justified population screening in HH.