Abstract
The sex determining region of Y(SRY) is required for the male sex determination. Recently several mutations of SRY gene have been identified in 46XY gonadal dysgenesis(GD). All mutations reported so far are located within the putative DNA binding motif known as HMG box domain. We investigated SRY gene of four sporadic cases and two sisters in one family with 46XY GD by polymerase chain reaction and single strand conformation polymorphism and subsequent DNA direct sequencing. Four sporadic cases did not show any mutations in SRY gene, while two sisters in one family shared the same one base mutation T to A, which exists out of the putative DNA binding motif region of SRY gene. By this mutation, a codon TTG(Leucine) changes a stop codon TAG. Generation of this stop codon would be expected to make a truncated nonfunctional SRY gene products, and affect DNA binding activity, resulting in 46,XY GD.
From these results it is concluded that in addition to the mutations in HMG box domain of SRY gene new mutation reported here cause 46 XY GD. Furthermore, this new mutation in this family will shed light on disclosing the mechanism of genetic transmission in the familiar cases of 46 XY GD.
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Tajima, T., Shinohara, N., Nakae, J. et al. A NEW POINT MUTATION OF SRY GENE IN TWO SISTERS WITH 46 XY GONADAL DYSGENESIS. Pediatr Res 33 (Suppl 5), S13 (1993). https://doi.org/10.1203/00006450-199305001-00060
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DOI: https://doi.org/10.1203/00006450-199305001-00060