对 已知的多个特 异基因突变 的 遗传病的检测 ， 可用在 DHPLC基础上建立的多重引物延伸方法来检测 。 例如，β 地贫， G6PD等遗传病的检测，目前已经有试剂盒推出。如：
n Thrombophilia Kit
n Hemochromatosis kit
n Beta-Thallassemia kit
n G6PD kit
n Cytochrome P450 kits
n Hearing Loss (Connexin 26) kit
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 |