A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations.
A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations.
复制标题
用于快速同时检测 9 个 HFE 基因突变的反向杂交测定。
DOI：
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发表时间：
2000
期刊：
影响因子：
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通讯作者：
F. Kury
中科院分区：
文献类型：
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作者：
C. Oberkanins;A. Moritz;J. D. de Villiers;M. Kotze;F. Kury
遗传性血色素沉着症（HH）是一种非常常见的常染色体隐性遗传性铁代谢疾病，常与HFE基因突变有关。HFE突变的分子遗传学检测被认为对于携带者识别以及疾病的早期诊断是有价值的，允许通过静脉切开术进行简单治疗和患者的正常生存。我们已经开发了一种反向杂交检测的常规诊断8个先前描述的和一个新的（E168Q）HFE点突变。该测试基于多重DNA扩增和即用型膜测试条，其包含固定为平行线阵列的每个野生型和突变等位基因的寡核苷酸探针。该过程是快速的，并且可以在市售设备上自动化，并且通过添加新的探针，可以容易地调整测试条以覆盖越来越多的突变。
Hereditary hemochromatosis (HH) is a very common autosomal recessive disorder of iron metabolism and frequently associated with mutations in the HFE gene. Molecular genetic testing for HFE mutations is considered valuable for carrier identification, as well as for early diagnosis of the disease, allowing simple treatment by phlebotomy and normal survival of patients. We have developed a reverse-hybridization assay for the routine diagnosis of eight previously described and one novel (E168Q) HFE point mutations. The test is based on multiplex DNA amplification and ready-to-use membrane teststrips, which contain oligonucleotide probes for each wild-type and mutated allele immobilized as an array of parallel lines. The procedure is rapid and accessible to automation on commercially available equipment, and by adding new probes the teststrip can easily be adapted to cover an increasing number of mutations.