RESUMEN
Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites.
Asunto(s)
Metilación de ADN , Impresión Genómica , ARN no Traducido/genética , Trastornos del Desarrollo Sexual 46, XX/diagnóstico , Trastornos del Desarrollo Sexual 46, XX/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Estudios de Casos y Controles , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Islas de CpG , Femenino , Finlandia , Predisposición Genética a la Enfermedad , Humanos , Riñón/anomalías , Conductos Paramesonéfricos/anomalías , Fenotipo , Reacción en Cadena de la Polimerasa/métodos , ARN Largo no Codificante , Somitos/anomalías , Columna Vertebral/anomalías , Útero/anomalías , Vagina/anomalíasRESUMEN
OBJECTIVE: To investigate whether Y chromosomal genetic material has a role in the development of Müllerian aplasia in Finland. We have studied the TSPY1 gene and 38 additional male-specific fragments covering areas of both the long and short arms of the Y chromosome in Finnish patients with Müllerian aplasia. DESIGN: A retrospective study. SETTING: University hospital and genetic laboratory. PATIENT(S): A sample set of 110 Finnish patients with well-diagnosed Müllerian aplasia and 20 healthy relatives (13 mothers, 4 fathers, and 3 sisters from different families) were included in the study. One hundred healthy female controls with a background of at least one normal pregnancy with delivery were used as controls. INTERVENTION(S): Blood samples for DNA extraction. MAIN OUTCOME MEASURE(S): Detection of Y chromosomal fragments by polymerase chain reaction in female patients with Müllerian aplasia. RESULT(S): None of the female patients showed presence of the earlier reported TSPY1 gene or 38 additional Y chromosomal markers. CONCLUSION(S): Our results indicate that the studied Y-specific fragments, namely TSPY1 and 38 Y chromosomal markers, are not responsible for the syndrome in these Finnish patients with Müllerian aplasia.