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目的比较悬浮点阵技术(suspension array,SA)及变性高效液相色谱技术(DHPLC)在β-地中海贫血及基因分型诊断中的应用。方法通过分析100例正常人标本和69例经PCR反向斑点杂交技术(PCR-RDB)确认的β-地中海贫血患者外周血DNA标本,经PCR扩增并分别运用SA及DHPLC两种方法对其进行基因分型诊断。结果100例正常人标本结果为阴性,69例β-地中海贫血标本经两种方法检测其缺失和突变的基因型别完全一致,其中单位点基因突变65例,多位点基因突变4例。结论两种检测技术在β-地中海贫血基因分型诊断中准确性完全一致,具有快速、高效、检测平台的通用性的共同点;但悬浮点阵技术在临床标本检测具有更高的优势,变性高效液相色谱技术则可检测未知突变,在基础研究方面具有优势。
Objective To compare the application of suspension array (SA) and denaturing high performance liquid chromatography (DHPLC) in the diagnosis of β-thalassemia and genotyping. Methods The DNA samples of peripheral blood from β-thalassemia patients confirmed by PCR reverse dot blot hybridization (PCR-RDB) and 100 normal human samples were analyzed. Two kinds of methods, SA and DHPLC, Genotyping diagnosis. Results The results of 100 normal samples were negative. The 69 samples of β-thalassemia were detected by two methods. The genotypes of deletion and mutation were exactly the same, including 65 cases of single point mutation and 4 cases of multi-locus mutation. Conclusion The accuracy of the two detection methods in the diagnosis of β-thalassemia is exactly the same, which has the common point of rapidness, high efficiency and universal testing platform. However, the suspension dot matrix technology has higher advantages in the detection of clinical specimens, High performance liquid chromatography can detect unknown mutations and has advantages in basic research.