Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy
| Autor: | Lawrence C. Layman, Kenneth D. Lanclos, Leo Plouffe, J. Rogers Byrd, Paul G. McDonough, Sandra P.T. Tho |
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| Rok vydání: | 1992 |
| Předmět: |
Male
endocrine system medicine.medical_specialty Gonad Molecular Sequence Data Disorders of Sex Development Gonadal dysgenesis Aneuploidy Locus (genetics) Biology Gonadal Dysgenesis Y chromosome Polymerase Chain Reaction XY gonadal dysgenesis Y Chromosome Internal medicine Testis medicine Humans Southern blot Genetics Base Sequence Chromosome Mapping Obstetrics and Gynecology medicine.disease Blotting Southern Endocrinology Testis determining factor medicine.anatomical_structure Genes Molecular Probes Female |
| Zdroj: | American Journal of Obstetrics and Gynecology. 167:1794-1802 |
| ISSN: | 0002-9378 |
| Popis: | OBJECTIVES: The purpose of our study was to discover whether the testicular determining factor gene SAY (sex-determining region on Y) is present or absent in XX true hermaphrodites and in subjects with gonadal dysgenesis caused by Y aneuploidy. STUDY DESIGN: We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SAY. With the polymerase chain reaction technique, the sequence coding the 80 amino acid-conserved motif was amplified. The 0.9 kb Hin cll pY53.3 subclone, which covers the open reading frame of SAY, serves as a probe for Southern blot analysis. RESULTS: Test results for all five XX true hermaphrodites were negative for SAY. Conversely, 22 of the 24 individuals with 45,X/46,XY gonadal dysgenesis were positive for SAY, including the 10 subjects with only bilateral streak gonads. CONCLUSIONS: The absence of SAY in XX true hermaphrodites and the presence of SAY in 10 subjects with 45,X/46,XY constitution who harbored only bilateral streak gonads seem to indicate that multiple genes are involved in gonadal differentiation. (AM J OBSTET GYNECOL 1992;167: 1794-802.) |
| Databáze: | OpenAIRE |
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