Lack of mutational alteration in the conserved regions of ZFY and SRY genes of 46,XY females with gonadal dysgenesis

Chia C. Pao*, Shu Min Kao, Jyu Jen Hor, Shiuh Young Chang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

10 Scopus citations

Abstract

To further our understanding of the mechanism of action of regulatory and structural genes involved in human sex determination, we have examined three sex-reversed 46, XY females and two of their normal fathers for any mutational alteration in ZFY and SRY genes, using polymerase chain reaction and single-strand conformation polymorphism and by subsequent DNA sequencing. We could not find any mutation in the ZFY and SRY genes of these patients and their fathers. The results seem to suggest that although ZFY and SRY may be required for initiation of testis differentiation and male sex determination, sex-reversed females may predominantly result from alterations in genes either downstream or secondary to ZFY or SRY.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalHuman Reproduction
Volume8
Issue number2
DOIs
StatePublished - 02 1993

Keywords

  • SRY
  • SSCP
  • TDF
  • Testis-determining factor
  • ZFY

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