Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.

@article{Jeske2007AndrogenRG,
  title={Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.},
  author={Yvette W A Jeske and Ivan Mcgown and David M. Cowley and Christine Oley and Michael J. Thomsett and Catherine S Y Choong and Andrew M Cotterill},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2007},
  volume={20 8},
  pages={893-908}
}
We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was examined including analysis of polymorphic CAG and GGN repeats in all patients. AR defects were found in 66.7% (6/9) of patients with complete AIS (CAIS) and 13.6% (3/22) of patients with partial AIS (PAIS). A novel deletion (N858delG) leading to a premature stop codon was found in CAIS patient P1. CAIS patient P2 has a novel deletion… CONTINUE READING

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AR geneGene associated with diseaseAndrogen-Insensitivity Syndrome
We genotyped the androgen receptor ( AR ) gene in 31 Australasian patients with androgen insensitivity syndrome ( AIS ) .
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