O'Donovan M C, Oefner P J, Roberts S C, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer S S, McGuffin P
Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom
Genomics. 1998 Aug 15;52(1):44-9. doi: 10.1006/geno.1998.5411.
Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.
变性高效液相色谱法（DHPLC）是一种用于检测新突变的新型高容量技术。我们在对凝血因子IX基因的H外显子和1型神经纤维瘤病基因的第16外显子进行盲法分析时，评估了该方法的敏感性和特异性。在针对每个外显子的单一条件下，携带48种独特突变的55/55名个体以及具有野生型等位基因的55/55名个体均被正确识别。我们得出结论，DHPLC是一种用于突变检测的高度灵敏且特异的方法。
