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      Permanent link:
      http://www.ias.ac.in/article/fulltext/jgen/095/04/0911-0921

    • Keywords

       

      androgen insensitivity syndrome; androgen receptor; truncation mutation; N-terminal domain; XY sex reversal.

    • Abstract

       

      Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified here lead to the formation of truncated receptor protein, involving a substantial loss of AR functional domains which explains the phenotype in the subjects. The n.1761G>A substitution has been previously reported in cases with mild androgen insensitivity. Although the ligand-binding domain was considered as the mutational hot spot in AR gene, we report here 3/5 variations in the N-terminal domain emphasizing the significance of considering the N-terminal domain of AR as well for mutation screening. Our present observation also strengthens the role of AR gene and its direct association with AIS.

    • Author Affiliations

       

      BALACHANDRAN SARANYA1 GUNASEKARAN BHAVANI1 BRINDHA ARUMUGAM1 MEENA JAYASHANKAR2 SATHIYAVEDU THYAGARAJAN SANTHIYA1

      1. Department of Genetics, Dr. ALMPG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai 600 113, India
      2. Department of Medical Genetics, Institute of Obstetrics and Gynecology, Madras Medical College, Government Hospital for Women and Children, Egmore, Chennai 600 008, India
    • Dates

       

© 2017 Indian Academy of Sciences, Bengaluru.