Detection of Y-chromosomal DNA with marker chromosomes in Turner's syndrome.

P. L. Kuo*, R. C. Wu, C. C. Tzeng, S. J. Lin, S. S. Liu, K. E. Huang

*此作品的通信作者

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2 引文 斯高帕斯(Scopus)

摘要

Patients with clinical features of Turner's syndrome may have a 45,X/46,X + mar or 46,X + mar karyotype. It is estimated that phenotypic females or intersexuals with a Y chromosome and gonadal dysgenesis have a 20% risk of developing gonadoblastoma, so it is crucial to know whether Turner's syndrome patients have a Y chromosome. We studied the chromosomal make-up of four patients with Turner's syndrome using the polymerase chain reaction (PCR). Nine Y-chromosomal loci including four loci (PABY, SRY, ZFY, DYS14) on the short arm, one loci (DYZ3) on the centromere, and four loci (DYS132, DYS1, DYZ1, DYZ2) on the long arm were amplified to determine the origin of marker chromosomes. Three patients were identified as having Y chromosome DNA. Patient 1 contained the presumed gonadoblastoma locus (DYS132) and a prophylactic gonadectomy was carried out. DNA extracted from dysgenetic gonads did not show Y chromosome DNA. A rapid, highly sensitive and isotope-free method for detection of abnormal Y chromosomes in Turner's syndrome patients has been developed. Chromosome in situ hybridization analysis is required to confirm the PCR results, to provide further evidence for molecular organization of these marker chromosomes.

原文英語
頁(從 - 到)474-480
頁數7
期刊Journal of the Formosan Medical Association
94
發行號8
出版狀態已出版 - 08 1995
對外發佈

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