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Korean Journal of Obstetrics & Gynecology 2002;45(12):2244-2249.
Published online December 1, 2002.
Detection of Y Chromosome-specific Sequences in Patients with Turner Syndrome.
Soo Hee Choi, Young Min Choi, Sung Hyo Park, Eun Ran Chang, Kwang Bum Bai, Se Won Yang, Seok Hyun Kim, Hye Won Seol, Sun Kyung Oh, Shin Yong Moon
1Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea.
2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
3Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea.
4Department of Obstetrics and Gynecology, Seoul Municipal Boramae Hospital, Korea.
Abstract
Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials. Recent studies using PCR based methods showed higher sensitivity to detect Y-specific sequences, in patients who were Y chromosome-negative cytogenetically. In this study PCR was performed on 44 Turner patients with no Y chromosome by cytogenetic analysis to detect the SRY, AMELY, ZFY, and DYZ1 sequences. Of seven patients whose karyotypes were 45,X/46,X,+mar, three patients were positive for SRY, ZFY, and AMELY. DYZ1 sequences was negative in them. And any of SRY, ZFY, AMELY, and DYZ1 sequences was detected in the remaining 37 patients. This result shows that PCR analysis for Y-specific sequences in Turner patients, especially in patients who have marker chromosome is a significant effort.
Key Words: Turner syndrome, Y chromosome, SRY gene, marker chromosome, ZFY gene, amelogenin gene, DYZ1 gene


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