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    • Keywords

       

      androgen receptor; complete androgen insensitivity syndrome; mutation; karyotype analysis; DNA sequencing.

    • Abstract

       

      Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People’s Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible forChinese CAIS. The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic counselling clinically.

    • Author Affiliations

       

      JING HE1 SHUWU QI2 HUIJUN ZHANG1 JINGJING GUO1 SHU CHEN1 QI ZHANG3 BAOSHENG ZHU1

      1. Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, Yunnan, People’s Republic of China
      2. Urologic Surgery, The First People’s Hospital of Yunnan Province, Kunming 650032, Yunnan, People’s Republic of China
      3. Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming 650500, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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