变性高效液相色谱法与直接测序法在单核苷酸多态性检测中的比较
[Comparison of denaturing high performance liquid chromatography with direct sequencing in the detection of single nucleotide polymorphism].
作者信息
Shi J, Yang S, Jiang Z, Jiang H, Chen T, Chen Z, Huang W
机构信息
Chinese Human Genome Center at Shanghai, Shanghai 201203 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):198-201.
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.
目的
研究变性高效液相色谱（DHPLC）技术检测单核苷酸多态性（SNP）的灵敏度和准确性。
方法
采用DHPLC和直接测序法对41份样本进行检测。
结果
比较结果表明，DHPLC检测出了直接测序法发现的所有杂合序列。在纯合序列检测中未出现假阳性信号。此外，对于杂合突变或多态性，或两者兼有的情况，从未获得假阴性结果。
结论
DHPLC是一种用于SNP鉴定的有效方法，尤其适用于大规模筛查中的SNP分型。
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