Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

J. R. Hawkins, A. Taylor, P. N. Goodfellow, C. J. Migeon, K. D. Smith, G. D. Berkovitz

Research output: Contribution to journalArticle

114 Scopus citations


The Y chromosome gene SRY (sex-determining region, Y gene) has been equated with the mammalian testis-determining factor. The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing. Mutations were identified in three subjects, of which two gave altered SSCP patterns. Two of them were point mutations causing amino acid substitutions, and the third was a single-base deletion causing a frameshift. All three mutations caused alterations in the putative DNA-binding region of the SRY protein. Genomic DNA was obtained from the fathers of two of the three mutant patients: one mutation was demonstrated to be de novo, and the other was inherited. The presence of SRY mutations in three of five patients suggests that the frequency of SRY mutations in XY females is higher than current estimates.

Original languageEnglish (US)
Pages (from-to)979-984
Number of pages6
JournalAmerican journal of human genetics
Issue number5
StatePublished - Jan 1 1992
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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