Haemochromatosis: Automated Detection of the Two Point Mutations in the HFE Gene: Cys282Tyr and His63Asp
Haemochromatosis: Automated Detection of the Two Point Mutations in the HFE Gene: Cys282Tyr and His63Asp
复制标题
血色病：自动检测 HFE 基因中的两点突变：Cys282Tyr 和 His63Asp
DOI：
10.1515/cclm.2000.193
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Klaus Wielckens
中科院分区：
文献类型：
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作者：
K. Klingler;Dagmar Zech;Klaus Wielckens
遗传性血色病（HH）是白种人最常见的遗传性疾病之一。HFE基因中的两种突变与HH有关：80 - 90%的HH患者为点突变CYS 282 Tyr纯合型，而其余大多数患者显示突变CYS 282 Tyr和点突变HIS 63 Asp的复合杂合性，或为HIS 63 Asp纯合型。虽然这种疾病可以很容易地治疗，但症状是非特异性的，并且发病和严重程度受环境因素的影响，因此这种疾病可以一直未被发现，直到几十年的铁过载导致各种器官的不可逆损伤，这可能导致它们的衰竭。为了检测HH患者，需要简单且具有成本效益的测试。我们开发了一种快速、自动化、基于PCR的检测方法，该方法利用两个扩增片段中的一个诊断性限制性位点。该测试采用现成的化学品，并使用许多临床实验室中可用的免疫分析仪的自动检测过程，从而避免了对更专业的PCR分析仪的额外投资。由于其低成本和易于操作，该测定特别适合于常规临床实验室。
Abstract Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either a compound heterozygosity for the mutation CYS282Tyr and the point mutation HIS63Asp, or are homozygous for HIS63Asp. Though the disease can be treated easily, symptoms are non-specific, and onset and severity are influenced by environmental factors, and therefore the disease can remain undetected until decades of iron overload lead to irreversible damage in a variety of organs, which may result in their failure. In order to detect patients with HH, simple and cost-effective tests are needed. We have developed a rapid, automated, PCR-based test which makes use of a diagnostic restriction site in each of two amplified fragments. The test employs off-the-shelf chemistry and uses the automated detection process of an immunoassay analyzer that is available in many clinical laboratories, thus avoiding an additional investment in a more specialized PCR analyzer. Because of its low costs and easy handling, the assay is particularly suited for the routine clinical laboratories.