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Nucleic Acids Research, 1989, Vol. 17, No. 15 5961-5971
© 1989

MOLECULAR BIOLOGY

Detection of novel genetic markers by mismatch analysis

R.G. Roberts, A.J. Montandon, M. Bobrow and DR. Bently

Paediatric Research Unit, Division of Medical and Molecular Genetics, UMDS, Guy's Hospital London SE1 9RT, UK

Received May 24, 1989. Accepted June 27, 1989.

Chemical mismatch detection has been used to identify previously unknown genomic sequence variations that represent a new source of markers for genetic analysis. The approach detects all types of sequence changes, and therefore overcomes the limitation of restriction analysis, which identifies only a small fraction of the available sequence variations. Three new markers identified at the 3' end of the human dystrophin gene result from variable numbers of exact tandem repeats of 4bp (two examples) or 5bp (one example). None of these would have been detected as restriction fragment length polymorphisms by established procedures.


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