Genotyping of Two Mutations in the HFE Gene Using Single-Base Extension and High-Performance Liquid Chromatography

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• 作者：Joseph M. Devaney ; Elizabeth L. Pettit ; Stephen G. Kaler ; Peter M. Vallone ; John M. Butler ; and Michael A. Marino
• 刊名：Analytical Chemistry
• 出版年：2001
• 出版时间：February 1, 2001
• 年：2001
• 卷：73
• 期：3
• 页码：620 - 624
• 全文大小：51K
• 年卷期：v.73,no.3(February 1, 2001)
• ISSN：1520-6882

文摘

Currently, a major focus of human genetics is the utilization of single-nucleotide polymorphisms for clinical diagnostics, whole-genome linkage disequilibrium screens toidentify common disease genes such as Alzheimer disease, determination of the recent evolutionary history ofa species, and the process of speciation. We have examined single-nucleotide extension coupled with high-performance liquid chromatography as a method tosimultaneously genotype two SNPs occurring in the coding region of the HFE gene that produce clinical effects.This assay allows concurrent genotyping of the C282Y andH63D mutations in 11 min and is 100% concordant withcurrent testing methods for both of these mutations.