Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:6974321
- Imperial Cancer Research Fund, London (United Kingdom)
- John Hopkins Univ. School of Medicine, Baltimore, MD (United States)
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 Muellerian 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 suggest that the frequency of SRY mutations in XY females is higher than current estimates. 25 refs., 2 figs.
- OSTI ID:
- 6974321
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:5; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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