Leland Stanford Junior University

Peter Anton Underhill

Peter J Oefner

Peter Josef Oefner

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 describes a method for separating heteroduplex and homoduplex DNA molecules in a mixture. In the method, such a mixture is applied to a stationary reverse phase support. The heteroduplex and homoduplex molecules are eluted with a mobile phase containing an ion-pairing reagent and an organic solvent. The eluting is carried out under conditions effective to at least partially denature the heteroduplexes (e.g., thermal or chemical denaturing) resulting in the separation of the heteroduplexes from the homoduplexes. The method has many applications including, but not limited to, comparative nucleic acid sequencing, linkage analysis, evolutionary studies, forensics, identification of disease-causing gene mutations, genetic marker development and diagnostics.

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Palo Alto, CA, United States of America

Peter Anton Underhill