Population Genetics of DNA Polymorphisms

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This grant provides the first of four expected years of support. Dr.Jorde and his colleagues will conduct genetic studies on a sample of 400 Utah Mormons born in 8 different geographic subdivisions. Dr. Jorde will obtain restriction fragment length polymorphisms (RFLPs) from three different genomic sources: mitochondrial DNA (mtDNA), Y chromosomal DNA and autosomal DNA. The first is inherited maternally, the second only through the paternal line the the third from both parents. Hypotheses will be tested regarding levels of polymorphism, between-group genetic variance andd genetic distances using these three types of RFLPs. Given the excellent documentation maintained by the Mormon church it will also be possible to compare genetic kinship based on RFLPs with previously obtained estimates of kinship based on migration matrices, isonoymy (shared last names) and pedigree data. This will allow several evolutionary hypotheses to be tested. Theory, for example, predicts that Y chromosomal DNA and mtDNA RFLPs should be especialy sensitive indicators of founder effects and drift. If this is true, then genetic distances calculated using these systems should be comparatively larger than those based on autosomal DNA for smaller outlying subdivisions. This project is important because it will help to develop a technique which is of great potential use in anthropological as well as other types of genetic study. Because the genetics of mtDNA and Y chromosomal DNA are simple - each inherited from only one parent - and because both kinds of DNA appear to mutate quickly, both potentially provide excellent population markers which can be used to trace the migration and physical interaction of groups over time. Through study of present day groups it should be possible to reconstruct their history. Because of this recognized potential, mtDNA has already been used for this purpose but the results are controversial since basic studies in controlled situations have not been conducted. Dr. Jorde's project should remedy this situation. The results of this research will be of value not only to anthropologists and historians but also to geneticists and other biologists.