Pilot HGDP: Assessment of High-Throughput Assays for the PCR based Genotyping of Classical Polymorphic Systems

Many individuals from many populations have been typed for the traditional `classical` blood group and enzyme polymorphisms (e.g. ABO, Rh, and MNS). In fact, these markers make up the majority of the population genetic data available today. However, for a number of reasons, the use of these markers is declining and their continued use will depend on being able to type them from DNA samples. The primary goal of this project is to develop high-throughput DNA-based assays for 12 of the most important classical genetic markers. These new assays will then be used to type a number of different ethnographically defined populations previously typed using the classical methods. In this way, the concordance of the DNA-based and the classical assays can be tested in populations from around the world. The successful completion of this project will result in the modernization of some very important genetic marker systems, insuring their continued use and making them accessible to more researchers. In the process of the conversion of these markers two high-throughput genotyping methods will also be compared. The ability to generate large numbers of genotypes is essential to molecular population genetic studies. Practical lessons from this project will be of interest to researchers planing large-scale genetic screening, population, or family-based studies.