Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions  

Oleh:

Guo, Qiwei ; Lan, Fenghua ; Xu, Liangpu ; Jiang, Yu

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 97 no. 04 (Apr. 2012), page 864-869.
Topik: Y-Chromosomal microdeletions; real-time PCR; EAA/EMQN guidelines; HANDS; azoospermia; oligozoospermia

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2012.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Objective To develop a rapid and reliable method for molecular diagnosis of Y-chromosomal microdeletions. Design Study of diagnostic accuracy. Setting Molecular diagnostics laboratories in three hospitals. Patient(s) A total of 701 men with nonobstructive azoospermia or oligozoospermia from three hospitals. Intervention(s) We developed a quadruplex real-time polymerase chain reaction (PCR) assay and evaluated its performance in molecular diagnosis of Y-chromosomal microdeletions. Main Outcome Measure(s) Analytic sensitivity, analytic specificity, clinical sensitivity, and clinical specificity. Result(s) The limit of detection of quadruplex real-time PCR assay was 100 pg genomic DNA. The method attained 100% analytic specificity, 100% clinical sensitivity, and 100% clinical specificity. Conclusion(s) We have successfully upgraded the diagnostic method published by the European Academy of Andrology and the European Molecular Genetics Quality Network. Our method was validated to be fast, simple, contamination free, of high analytic sensitivity and specificity. Therefore, it is strongly suggested that such quadruplex real-time PCR assay can be readily applied as clinical routine in the near future. From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case. Conclusion(s) Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.

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