PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome
- Universidad Complutense, Madrid (Spain); and others
The presence of Y chromosome sequences in Ullrich-Turner syndrome (UTS) patients has been suggested in previous work. Karyotype analysis estimated at about 60% of patients with a 45, X constitution and molecular analysis (Southern blot analysis with several Y chromosome probes and PCR of specific sequences) identified the presence of Y chromosome material in about 40% of 45, X patients. We have developed a very sensitive, PCR-based method to detect Y specific sequences in DNA from UTS patients. This protocol permits the detection of a single cell carrying a Y sequence among 10{sup 5} Y-negative cells. We studied 18 UTS patients with 4 Y-specific sequences. In 11 patients we detected a positive amplification for at least one Y sequence. The existence of a simple and sensitive method for the detection of Y sequences has important implications for UTS patients, in view of the risk for some of the females carrying Y chromosome material of developing gonadoblastoma and virilization. Additionally, some of the UTS-associated phenotypes, such as renal anomalies, could be correlated with the presence of Y chromosome-specific sequences. 27 refs., 2 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105203
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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