Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation

Hum Genet. 1996 Sep;98(3):310-2. doi: 10.1007/s004390050212.


We describe a heteroduplex analysis for the detection of the 185delAG mutation in the BRCA1 gene. The protein truncation test (PTT) has previously been used to identify many of the mutations in BRCA1 that result in premature termination of the protein. However, we were not able to detect the 185delAG mutation by PTT and suggest that heteroduplex analysis may complement PTT for analysis of BRCA1 mutations. This simple technique may be useful for studies on the prevalence and the penetrance of the 185delAG mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • BRCA1 Protein
  • Base Sequence
  • Breast Neoplasms / genetics
  • DNA Primers
  • Exons
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Nucleic Acid Heteroduplexes*
  • Sequence Deletion
  • Transcription Factors / genetics*


  • BRCA1 Protein
  • DNA Primers
  • Neoplasm Proteins
  • Nucleic Acid Heteroduplexes
  • Transcription Factors