Jackson H A, Bowen D J, Worwood M
Department of Haematology, University Hospital of Wales and University of Wales College of Medicine, Heath Park, Cardiff.
Br J Haematol. 1997 Sep;98(4):856-9. doi: 10.1046/j.1365-2141.1997.3193136.x.
The recently described association between haemochromatosis and mutations in the HFE or HLA-'H' gene has prompted the need for a simple and rapid genetic test capable of detecting multiple mutations simultaneously. Heteroduplex analysis, a new diagnostic technique, fulfills such criteria and we have investigated the potential for the detection of the Cys282Tyr mutation. 100 subjects were genotyped using the heteroduplex approach. The results showed clear distinction between individuals who did not carry the mutation, individuals who were heterozygous for the mutation and homozygous individuals. Heteroduplex results obtained by both silver staining and capillary electrophoresis showed 100% concordance with those obtained by restriction digestion of PCR product.
最近所描述的血色素沉着症与HFE或HLA -‘H’基因突变之间的关联，促使人们需要一种能够同时检测多种突变的简单快速的基因检测方法。异源双链分析作为一种新的诊断技术，符合这样的标准，我们已经研究了其检测Cys282Tyr突变的潜力。使用异源双链方法对100名受试者进行基因分型。结果显示，未携带突变的个体、该突变的杂合个体和纯合个体之间有明显区别。通过银染和毛细管电泳获得的异源双链结果与通过PCR产物酶切获得的结果显示出100%的一致性。
