Detection of the SRY gene in a 46,XY phenotypic female by the PCR-SSCP method

Key Findings & Data:Mutations and deletions in this region affect gonadal differentiation, causing primary sex reversal of 46,XY.Cytogenetic analysis was performed and the sex-determining region of the Y chromosome (SRY) sequence was amplified by the polymerase chain reaction-single strand corformation polymorphism (PCR-SSCP) method.

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Conclusion & Impact:Also a shifted band was detected by the SSCP method.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

The short arm of the human Y chromosome determines maleness, initiating the development of the testes. Mutations and deletions in this region affect gonadal differentiation, causing primary sex reversal of 46,XY.Cytogenetic analysis was performed and the sex-determining region of the Y chromosome (SRY) sequence was amplified by the polymerase chain reaction-single strand corformation polymorphism (PCR-SSCP) method. The patient showed a 46,XY chromosome arrangement while she was a phenotypic female. Also a shifted band was detected by the SSCP method.

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Cite This Article

ERDAL, M. E., BARLAS, İ. Ö. (2022). Detection of the SRY gene in a 46,XY phenotypic female by the PCR-SSCP method. Turkish Journal of Medical Sciences, Cilt: 30 - Sayı: 5, 501–503. https://ajindex.com/articles/612409

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