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。%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.
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