Status of sperm morphology assessment: an evaluation of methodology and clinical value  

Oleh:

Hoven, Leonie van den ; Hendriks, Jan C.M. ; Verbeet, Joze G.M.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 103 no. 01 (Jan. 2015), page 53-58.
Topik: Azoospermia; E2F1; infertility; NOA; cryptorchidism; array comparative genomic hybridization (aCGH); copy number variations (CNV)
Fulltext: PIIS0015028214022134.pdf (525.65KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K Non-tandon: tidak ada Tandon: 1

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Isi artikel

Objective To identify gene dosage changes associated with nonobstructive azoospermia (NOA) using array comparative genomic hybridization (aCGH). Design Prospective study. Setting Medical school. Patient(s) One hundred ten men with NOA and 78 fertile controls. Intervention(s) None. Main Outcome Measure(s) The study has four distinct analytic components: aCGH, a molecular karyotype that detects copy number variations (CNVs); Taqman CNV assays to validate CNVs; mutation identification by Sanger sequencing; and histological analyses of testicular tissues. Result(s) A microduplication at 20q11.22 encompassing E2F transcription factor-1 (E2F1) was identified in one of eight men with NOA analyzed using aCGH. CNVs were confirmed and in an additional 102 men with NOA screened using Taqman CNV assays, for a total of 110 NOA men analyzed for CNVs in E2F1. Eight of 110 (7.3%) NOA men had microduplications or microdeletions of E2F1 that were absent in fertile controls. Conclusion(s) E2F1 microduplications or microdeletions are present in men with NOA (7.3%). Duplications or deletions of E2F1 occur very rarely in the general population (0.011%), but E2F1 gene dosage changes, previously reported only in cancers, are present in a subset of NOA men. These results recapitulate the infertility phenotype seen in mice lacking or overexpressing E2f1.

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