Unit

UNIT 10.13 Identifying Mutations for MYH-Associated Polyposis

  1. Thomas W. Prior,
  2. Scott J. Bridgeman

Published Online: 1 JAN 2010

DOI: 10.1002/0471142905.hg1013s64

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Prior, T. W. and Bridgeman, S. J. 2010. Identifying Mutations for MYH-Associated Polyposis. Current Protocols in Human Genetics. 64:10.13:10.13.1–10.13.14.

Author Information

  1. Ohio State University, Columbus, Ohio

Publication History

  1. Published Online: 1 JAN 2010
  2. Published Print: JAN 2010

Abstract

Polyposis associated with mutations in the gene MYH is an autosomal recessive syndrome characterized by the development of colorectal adenomas and cancer. Two common mutations, p.Tyr165Cys (exon 7) and p.Glu382Asp (exon 13), have been shown to account for the majority of the mutations occurring in individuals of Caucasian ancestry. Other mutations have been found throughout the gene and many have been shown to have very low frequencies. Ethnic differences in the mutation spectrum have also been observed. Thus, in order to achieve the highest clinical sensitivity, it is necessary to perform whole-gene sequencing of the MYH gene. The sequencing protocol described allows one to identify mutations throughout the MYH gene. Curr. Protoc. Hum. Genet. 64:10.13.1-10.13.14. © 2010 by John Wiley & Sons, Inc.

Keywords:

  • colorectal cancer;
  • multiple colorectal adenomas;
  • genetic mutation;
  • mutation detection;
  • DNA sequencing