未知遗传变异筛查
对于无明显突变热点的基因， DHPLC技术采用部分变性的方法，可以对整个基因或基因的部分序列进行已知和未知突变的筛查。首先设计一组PCR引物，扩增基因带检测的序列，DHPLC系统通过扩增片段的序列预测DHPLC分析的温度和方法，直接对PCR产物进行分析。如苯丙酮尿症，马凡综合征等大多数遗传病的基因检测。DHPLC技术检测未知突变的准确率可达96%。
n HNPCC Kit
n P53 kit
n Cystic Fibrosis kit
n DMD kit
n PKD kit
n BRAC
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n Marfan Syndrome
参考文献；
1. Grant Wu, Liang Hua, 2 Jim Zhu, et al. Rapid, accurate genotyping of b-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay. British Journal of Haematology, 2003, 122, 311–316
2. Bastiaan Hoogendoorn · Nadine Norton · George Kirov , Nigel Williams et al. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet (2000) 107 :488–493
3. Mara Giordano , Marta Mellai , Bastiaan Hoogendoorn Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography . J. Biochem. Biophys. Methods 47 (2001) 101–
4. 郐艳荣 , 汪朝晖 , 宋昉， 等 变性高效液相色谱快速诊断儿童型脊肌萎缩症，中华全科医学， 2005 ， 8 （ 10 ）： 792 |