Does the Y chromosome have a role in Mullerian aplasia?  

Oleh:

Sandbacka, Maria ; Painter, Jodie ; Puhakka, Minna

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 94 no. 01 (Jun. 2010), page 120-125.
Topik: Mullerian aplasia; TSPY1; Y chromosome

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2010.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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.

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