108 patients with sex abnormality; cytogenetic and molecular analysis in Diyarbakır, Turkey

Year 2017, Volume: 9 Issue: 2, 51 - 60, 01.12.2017

Diclehan Oral , Selda Şimşek Hilmi İsi İlyas Yüce

Abstract

The relationship between abnormal chromosomal constitution and sex anomalies has been established since the development of cytogenetic and molecular methods. In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 108 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 108 patients, 49 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, with 45, X/46, XY 46, XXY,46,XX karyotype, In the patients negative for SRY, with 46,XY,46, XX karyotype It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development. . It is also essential for defining genotypic and phenotypic correlation and understanding the basic mechanism involved in sex determination.

Keywords

Chromosome; Sry gene; sex abnormality

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