Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools

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• 作者：Bastiaan Hoogendoorn ; Nadine Norton ; George Kirov ; Nigel Williams ; Marian Hamshere ; Gillian Spurlock ; Jehannine Austin ; Mark Stephens ; Paul Buckland and Michael Owen ; et al.
• 刊名：Human Genetics
• 出版年：2000
• 出版时间：December 2000
• 年：2000
• 卷：107
• 期：5
• 页码：488-493
• 全文大小：51 KB

文摘

At present, the cost of genotyping single nucleotide polymorphisms (SNPs) in large numbers of subjects poses a formidable problem for molecular genetic approaches to complex diseases. We have tested the possibility of using primer extension and denaturing high performance liquid chromatography to estimate allele frequencies of SNPs in pooled DNA samples. Our data show that this method should allow the accurate estimation of absolute allele frequencies in pooled samples of DNA and also of the difference in allele frequency between different pooled DNA samples. This technique therefore offers an efficient and cheap method for genotyping SNPs in large case-control and family-based association samples.