RESUMO
DNA methylation at H19 ICR1 was investigated in the placenta from pregnancies conceived by in vitro fertilization, intracytoplasmic sperm injection, and from natural conception. Our results showed that there were no significant differences in mean methylation between all pregnancy groups; therefore, assisted reproductive technology may not affect proper imprinting of H19 and IGF2.
Assuntos
Metilação de DNA , Fertilização in vitro , Fator de Crescimento Insulin-Like II/genética , Placenta/metabolismo , Injeções de Esperma Intracitoplásmicas , Adulto , Colúmbia Britânica , Feminino , Retardo do Crescimento Fetal/genética , Impressão Genômica , Idade Gestacional , Histonas , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , GravidezRESUMO
PURPOSE: To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities. METHODS: Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus. RESULTS: The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other. CONCLUSIONS: We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
