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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.