Research Information System
Thesis Type: Expertise In Medicine
Institution Of The Thesis: Gazi Üniversitesi, Tıp Fakültesi, Turkey
Approval Date: 2014
Student: FATMA NİHAL DİLEK
Supervisor: FERDA EMRİYE PERÇİN
Abstract:Disorders of sex development (DSD) involve several conditions ranging in severity from mild genital abnormalities to complete sex reversal, that result from abnormalities during gonadal determination and differentiation. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as SF1, SOX9, WT1, WNT4, DAX1, FOXL2, ATRX, DHH, MAP3K1 and CBX2. The Sex determining Region on the Y gene (SRY) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in SRY gene are responsible for sex reversal in approximately 15%of 46,XY sex reversal (46,XY DSD) cases. In this study we research mutations for SRY, WT1 and CBX2 genes with DNA sequence analysis. No pathogenic mutation was detected in these genes. We used the Array (Affymetrix Genome-Wide Human SNP Array 2.7) to analyse copy number variation in 10 individuals with unexplained 46,XY sex reversal. Choromosome 8q24.3 duplication detected in two cases, this region previously reported in a patient with gonadal dysgenesis. So we focused this region and we describe ZFP41, GLI4, TOP1MT, RHPN1, ZC3HC, TIGD5, PYCRL, TSTA3, BREA2 and PUF6 genes as candidate genes, which could have been responsible for sex reversal. Many genes need to be investigated to revealed to the etiology of 46,XY sex reversal. This study supports that using array systems provides better to have novel gene/genes.