A novel mutation 5' to the HMG box of the SRY gene in a case of Swyer syndrome

Mustafa Saifi, G. ; Tilak, Preetha ; Veitia, Reiner ; Manorama Thomas, I. ; Tharapel, Avirachan ; Mcelreavey, Ken ; Fellous, Mark ; Sharat Chandra, H. (1999) A novel mutation 5' to the HMG box of the SRY gene in a case of Swyer syndrome Journal of Genetics, 78 (3). pp. 157-161. ISSN 0022-1333

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We describe a novel mutation in the coding region of the SRY gene in a 46,XY female with Swyer syndrome. Analysis of SRY was carried out by direct sequencing of a 780-bp PCR product that included the SRY open reading frame (ORF). This revealed the presence of a point mutation, ins108A, in the coding region 50 to the HMG box which results in a frame shift and premature termination of the encoded protein. No other mutation was found in the SRY 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 in SRY, confirming earlier findings that most cases of XY femaleness are due to causes other than mutation in SRY. These observations and those of others are discussed in relation to the aetiology of XY sex reversal.

Item Type:Article
Source:Copyright of this article belongs to Indian Academy of Sciences.
Keywords:Sex Determination; SRY; Sex Reversal; Gonadal Dysgenesis
ID Code:5200
Deposited On:18 Oct 2010 06:45
Last Modified:16 May 2016 15:44

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