title: [Molecular sex determination. Significance in the diagnosis of gonadal pathologies].
abstract: Sex differentiation follows two steps: sex determination where gender follows from the development of the embryonic gonads such as testes or ovaries and sex differentiation leading to the formation of internal and external genitalia. In man, testis determination is dependent on SRY gene (sex region of Y) on the short arm of Y chromosome (Yp11.3). It has an open reading frame that encodes a 220 aa protein with a 80 aa motif related to HMG box. These sequences have been shown to mediate DNA binding. Recently, a DSS locus (Dosage Sensitive Sex-Reversal) has been isolated on Xp21. This gene could be involved in ovaric determination. Moreover, it has been shown that SRY gene expression activates a regulatory pathway that leads to the expression of MIS (Mullerian Inhibiting Substance). Finally, the molecular genetic techniques have provided the tools for the analysis of these genes in patients with gonadal dysgenesis. The information obtained together with phenotype and cytogenetic data has established important correlations of diagnosic value.
authors.affiliation: Laboratorio de Biología Molecular, Hospital de Clínicas José de San Martín, Buenos Aires.
authors.forename: S
authors.initials: S
authors.lastname: Copelli
authors.forename: H
authors.initials: H
authors.lastname: Targovnik
authors.forename: C
authors.initials: C
authors.lastname: Bergada
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006801:Humans; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis / Q000379:methods*; D012733:Sex Differentiation / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
vernacular_title: La determinación sexual a nivel molecular. Implicancia en el diagnóstico de patologías gonadales.