变性高效液相色谱与直接测序法在单核苷酸多态性检测中的应用比较

目的 了解变性高效液相色谱（denaturing high performance liquid chromatography,DHPLC)方法，在人类基因组单核苷酸多态性（single nucleotide polymorphism,SNP)检测中的灵敏度和精确度。方法 应用DHPLC方法检测了41份样本，并与直接测序法相比较。结果 在41个样本的检测中，DHPLC的检出率达到了100%，在大规模样本的杂合子筛检中，检测的错误率几乎为0。结论 DHPLC技术是一项可用于未知SNP的检测，尤其是在人群中大规模筛查已知SNP的有效手段。

Comparison of denaturing high performance liquid chromatography with direct sequencing in the detection of single nucleotide polymorphism

OBJECTIVE: Investigate the sensitivity and accuracy of the denaturing high performance liquid chromatography(DHPLC) technique for the detection of single nucleotide polymorphism(SNP). METHODS: Forty-one samples were detected by both DHPLC and direct sequencing. RESULTS: The comparison demonstrated that DHPLC detected all heterozygous sequences found by direct sequencing. No false-positive signals were seen in the cases of homozygous sequences. Furthermore, no false-negative results were ever obtained with heterozygous mutations or polymorphisms, or both. CONCLUSION: DHPLC is a potent method for SNP identification especially SNP typing in large scale screening.