Leland Stanford Junior University

Peter J Oefner

Peter Anton Underhill

The present invention provides novel polymorphisms on the Y chromosome and methods of using these polymorphisms as well as known polymorphisms on the Y chromosome as indicators of evolutionary heritage. The polymorphisms of the present invention clustered to specific regions of the Y chromosome, and polymorphisms of particular use to the present methods are found in the non-recombining region of the human Y chromosome (NRY). These polymorphisms, including SNPs, insertions, and deletions, may be useful for numerous applications, including forensics, paternity testing, diagnosis and the like.

Method for determining genetic affiliation, substructure and gene flow within human populations

The present invention provides a method for detecting polymorphisms in a nucleic acid by preconditioning a sample of nucleic acids to completely denature the nucleic acids, e.g., via heating and/or chemical treatment, and performing high-performance liquid chromatography (HPLC) on the nucleic acid under denaturing conditions to identify any polymorphisms. The nucleic acids to be analyzed are completely denatured prior to application of the sample to a stationary reverse-phase support and throughout the HPLC process. Sample elution is also carried out under completely denaturing conditions, and the sample mixture is eluted with a mobile phase containing an ion-pairing reagent and an organic solvent.

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Redwood City, CA, United States of America

Peter J Oefner