Molecular analysis of sex determination in sex-reversed and true hermaphroditism
Braz. j. med. biol. res
; 29(6): 743-8, jun. 1996. tab
Artigo
em Inglês
| LILACS
| ID: lil-181408
Biblioteca responsável:
BR1.1
ABSTRACT
The SRY (sex region of Y) gene determines testis formation but not all cases of sex reversal in humans can be explained by alterations in this gene. We studied on 46,XY female, four 46,XX males, and nine true hermaphrodites (TH) three with an XY and six with an XX chromosomal constitution. The SRY gene was identified in the XX males and the TH with a Y chromosome but was not demonstrated in the XY female and the six XX TH. The Y-heterochromatin region was also identified in one 46,XX male, indicating a low grade mosaicism undetected by cytogenetics. The amplification of the amelogenin gene showed the presence of a 977-bp band that belongs to the short arm of chromosome X in all patients but the absence of a 780-bp band of the short arm of chromosome Y in three 46,XX males and in all the 46,XX TH. These studies demonstrate that the molecular study of sex-reversed patients and TH will help to understand the complex mechanisms of sex determination. The SRY gene is involved but other genes on the X chromosome and autosomes still remain to be studied.
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Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Análise para Determinação do Sexo
/
Transtornos do Desenvolvimento Sexual
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
1996
Tipo de documento:
Artigo