Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.

@article{Trifiro1991AmberMC,
  title={Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.},
  author={Mark Trifiro and Ronald L. Prior and Nelly Sabbaghian and Leonard Pinsky and Morris Kaufman and Edward Nylen and Denise D. Belsham and Cheryl Rochman Greenberg and K. Wrogemann},
  journal={American journal of medical genetics},
  year={1991},
  volume={40 4},
  pages={493-9}
}
We have discovered in the X-linked androgen receptor gene a single nucleotide substitution that is the putative cause of complete androgen insensitivity (resistance) in a family with affected individuals in 2 generations. Earlier studies on the family indicated co-segregation of mutant phenotype and the RFLPs at the loci DXS1 and DXYS1. The mutation is an adenine-to-thymine transversion in exon 8 that changes the sense of codon 882 from lysine to an amber (UAG) translation termination signal… CONTINUE READING