We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
- Authors
Baldazzi, L.; Nicolettic, A.; Gennari, M.; Barbaro, M.; Pirazzoli, P.; Cicognani, A.; Cacciari, E.
- Abstract
The SRY (sex-determining region, Y) gene is a genetic 'master switch' of gonadal differentiation whose product is present in the male genital ridge before testis formation and is required for its regular development. The SRY protein belongs to the SOX family of transcription factors, which are characterized by a high-mobility group (HMG) domain with DNA binding-bending properties, the ability to mediate protein-protein interactions, and containing signals for nuclear import (NLS). Direct sequencing of the entire coding region of the SRY gene led researchers to identify two new point mutations confirmed on both strands in two independent polymerase chain reactions (PCRs), in two Italian patients: patient 1, referred at birth for unexpected completely female genitalia, as routine amniocentesis showed a 46,XY karyotype; and patient 2 examined at 17 years of age for primary amenorrhoea and virilization signs, such as facial hirsutism and clitoris enlargement.
- Subjects
TURNER'S syndrome; FEMALE reproductive organs; TRANSCRIPTION factors; POLYMERASE chain reaction
- Publication
Clinical Genetics, 2003, Vol 64, Issue 3, p258
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1034/j.1399-0004.2003.00125.x