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    • Keywords


      sex determination; SRY ; sex reversal; gonadal dysgenesis

    • Abstract


      We describe a novel mutation in the coding region of theSRY gene in a 46, XY female with Swyer syndrome. Analysis ofSRY was carried out by direct sequencing of a 780-bp PCR product that included theSRY open reading frame (ORF). This revealed the presence of a point mutation, ins 108A, in the coding region 5’ to the HMG box which results in a frame shift and premature termination of the encoded protein. No other mutation was found in theSRY ORF. We infer that sex reversal in this individual is a result of this insertion. In none of the 13 other 46, XY females that were studied was a mutation detected inSRY, confirming earlier findings that most cases of XY femaleness are due to causes other than mutation inSRY. These observations and those of others are discussed in relation to the aetiology of XY sex reversal.

    • Author Affiliations


      G. Mustafa Saifi1 Preetha Tilak2 Reiner Veitia3 I. Manorama Thomas2 Avirachan Tharapel4 Ken Mcelreavey3 Mark Fellous3 H. Sharat Chandra1 5

      1. Department of Microbiology and Cell Biology, Indian Institute of Science, Bangalore - 560012, India
      2. Department of Anatomy, St John’s Medical College, Bangalore - 560034, India
      3. Immunogénétique Humaine, Institut Pasteur, Paris, Cedex 15 - 75724, France
      4. Division of Clinical Genetics, University of Tennessee, 711 Jefferson Avenue, Memphis, TN - 38163, USA
      5. Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur Post, Bangalore - 560 064, India
    • Dates

  • Journal of Genetics | News

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      Posted on July 25, 2019

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