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SNPSTR's: Assessing Genetic Diversity via Linked Marker Systems of Autosomal Chromosomes  
   
While mitochrondrial and Y chromosome data are the most highly informative non-recombining (essentially) units of the genome, autosomal DNA regions certainly provide a great deal of additional information regarding human history and prehistory. Single genetic markers provide some information, but tightly linked loci have the potential to provide even more. In December of 1998 Dr. Mountain initiated a project, in collaboration with Peter Underhill of the Genetics Dept at Stanford, involving a new set of genetic systems that we call SNPSTRs. These systems combine linked Single Nucleotide Polymorphisms (SNPs) and Short Tandem Repeat (STR) polymorphisms. We are currently in the pilot phase of the project, which is supported by the National Institutes for Health and is part of a larger Program Project with L.L. Cavalli-Sforza, M. Feldman, R. Davis, and P. Oefner at Stanford. Three students, Adam Miller, Matt Jobin, and Christopher Gignoux, have demonstrated that our proposed method for detecting and developing these systems is effective. Research Associate Alec Knight has focussed on refining protocols.  
   
One of the major long-term goals of this project is to develop the models and data analysis methods appropriate for the interpretation of patterns of variation at SNPSTR systems. We collaborate with Dr. Lev Zhivotovsky of the N. I. Vavilov Institute of General Genetics in Moscow who is currently working to develop non-equilibrium models for the dynamics of short tandem repeat variation in DNA lineages. Graduate student Matt Jobin is also conducting simulations, looking towards the development of novel data analysis techniques.  
   
We expect to continue this project for at least five years, involving students and postdoctoral scholars in marker system development, genotyping, modeling, and development of data analysis techniques.  
   
Funding  
   
National Institutes of Health, Nuclear DNA haplotype diversity in humans: Exploiting closely linked single nucleotide and microsatellite polymorphisms.  
   
For Further Study  
   
 
   
   
         
   
© 2003 Joanna Mountain. All Rights Reserved.
Design by Adam Miller.