|
|
| Domenice,S.; Corrêa,R.V.; Costa,E.M.F.; Nishi,M.Y.; Vilain,E.; Arnhold,I.J.P.; Mendonca,B.B.. |
| In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions) of DAX1 and WNT4 genes. In the second group consisting of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Sex reversal; SRY gene; DAX1 gene; SF1 gene; WNT4 gene. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000100020 |
| |
