Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism

European Journal of Obstetrics, Gynecology, and Reproductive Biology
Patricia CantoJuan Pablo Méndez

Abstract

To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism. We studied 13 patients with MGD and three patients with TS and Y mosaicism. DNA was isolated from blood leukocytes for subsequent polymerase chain reaction (PCR) and direct sequencing were performed in the ORF, as well as from the 5' and 3' flanking regions of the SRY gene. No mutations were present in any of the patients studied. The absence of mutations in these regions indicated that mutations were an unlikely cause of MGD or TS with Y mosaicism and suggested that there are others genes playing an important role in sex development.

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May 25, 2006·Current Opinion in Pediatrics·Mary E Fallat, Patricia K Donahoe
Aug 10, 2007·Orvosi hetilap·László SágodiAnikó Korcsmáros
May 26, 2012·American Journal of Medical Genetics. Part a·Mona MekkawyInas Mazen
Aug 30, 2019·Journal of Pediatric and Adolescent Gynecology·Elizabeth DabrowskiCourtney Finlayson

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