title: Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis.
abstract: Mixed gonadal dysgenesis (MGD) includes a group of heterogeneous conditions consisting of a dysgenetic testis with a streak gonad. MGD is probably due to a disturbance in testicular determination/differentiation. The objective of this study is to analyze the SRY gene in MGD patients. A molecular investigation was undertaken in sixteen patients with this disorder in an attempt to determine mutations in SRY through polymerase chain reaction, single strand conformational polymorphism and direct sequencing. Eleven patients showed 45,X/46,XY and five 46,XY karyotype. Mutations in SRY gene were shown to be absent in these patients. This study confirms the findings of other studies. The etiology of MGD is heterogeneous, and cytogenetics mosaicism typically seen in these patients may be a cause of this condition, although, the presence of mutations in testicular organizing genes downstream of SRY is still to rule out.
authors.affiliation: Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Hospital Universitario de Maracaibo. Ave. 23. ZIP 4001. Maracaibo, Estado Zulia. P.O. Box: 15374. Venezuela, Maracaibo, Venezuela. f.marfan@iamnet.com
authors.forename: F
authors.initials: F
authors.lastname: Alvarez-Nava
authors.forename: M
authors.initials: M
authors.lastname: Soto
authors.forename: L
authors.initials: L
authors.lastname: Borjas
authors.forename: R
authors.initials: R
authors.lastname: Ortiz
authors.forename: A
authors.initials: A
authors.lastname: Rojas
authors.forename: S
authors.initials: S
authors.lastname: Martínez
authors.forename: A
authors.initials: A
authors.lastname: Revol
authors.forename: H
authors.initials: H
authors.lastname: Barrera
authors.forename: Z
authors.initials: Z
authors.lastname: Alvarez
mesh_terms: D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006059:Gonadal Dysgenesis / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors