Baty D, Terron Kwiatkowski A, Mechan D, Harris A, Pippard M J, Goudie D
Molecular Genetics Laboratory, Ninewells Hospital and Medical School, Dundee, UK.
J Clin Pathol. 1998 Jan;51(1):73-4. doi: 10.1136/jcp.51.1.73.
Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis have previously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplified products. An amplification refractory mutation system (ARMS) has been developed that will simultaneously detect both hereditary haemochromatosis mutations. Comparison of the results obtained from the analysis of 46 samples referred for hereditary haemochromatosis testing showed no discrepancies between ARMS and restriction enzyme digestion. Furthermore, consistent results were obtained by ARMS from both blood and buccal mouthwash samples. The ARMS test is quicker and less expensive in terms of consumables and scientist time than restriction enzyme analysis, and is therefore suited to the routine diagnostic analysis of hereditary haemochromatosis.
遗传性血色素沉着症的基因检测可能会给诊断实验室带来巨大的工作量。与遗传性血色素沉着症相关的HFE基因中的C282Y和H63D突变，此前已通过多种方法检测到，包括聚合酶链反应（PCR）扩增产物的限制性消化模式改变。现已开发出一种扩增阻滞突变系统（ARMS），可同时检测这两种遗传性血色素沉着症突变。对46份送检遗传性血色素沉着症检测的样本分析结果显示，ARMS与限制性酶切消化结果之间无差异。此外，ARMS对血液和口腔漱口水样本均得出了一致的结果。与限制性酶切分析相比，ARMS检测速度更快，在耗材和科研人员时间方面成本更低，因此适用于遗传性血色素沉着症的常规诊断分析。
