Is there a role for the nuclear export factor 2 gene in male infertility?
| Autor: | Katrien Stouffs, Willy Lissens, Josiane Van der Elst, Ingeborg Liebaers, Herman Tournaye |
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| Přispěvatelé: | Department of Embryology and Genetics, Centre for Reproductive Medicine - Gynaecology |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Male
Nucleocytoplasmic Transport Proteins DNA Mutational Analysis Case-control studies Biology male infertility Male infertility Andrology Sertoli cell-only syndrome Exon Testis medicine Humans RNA Messenger Spermatogenesis Gene Azoospermia Messenger RNA Polymorphism Genetic Nucleocytoplasmic Transport Proteins/genetics Sertoli Cell-Only Syndrome Reverse Transcriptase Polymerase Chain Reaction RNA Messenger/analysis Testis/chemistry Obstetrics and Gynecology RNA-Binding Proteins Exons medicine.disease RNA-Binding Proteins/genetics Reverse transcription polymerase chain reaction Reproductive Medicine RNA splicing spermatogenesis/genetics RNA extraction Azoospermia/genetics Sertoli Cell-Only Syndrome/genetics |
| Zdroj: | Vrije Universiteit Brussel |
| Popis: | Objective To determine the presence of mutations in the NXF2 gene of patients with nonobstructive azoospermia. Design Molecular analysis of male infertility. Setting University genetic laboratory and reproductive clinic. Patient(s) Sixty-five patients with Sertoli cell–only syndrome (SCOS) and 20 control men. Intervention(s) Polymerase chain reaction, sequencing analysis, RNA extraction, and reverse transcription polymerase chain reaction. Main Outcome Measure(s) Expression of NXF2 messenger RNA and analysis of the NXF2 gene for the presence of mutations and polymorphisms. Result(s) Messenger RNA derived from the NXF2 gene could be amplified from normal human testicular tissue. Sequencing analysis showed the presence of two polymorphisms in the NXF2 gene. A first alteration, c.1779C>T, was observed in one man who had complete SCOS. Although it is located near an intron–exon boundary, this change probably does not affect splicing. The second alteration, c.1857A>G, was detected in 22 patients with complete SCOS and in 13 patients with incomplete SCOS. Also, 15 of 20 men with normal spermatogenesis had this alteration. Neither of these alterations causes a change at the amino acid level. Conclusion(s) No mutations were detected in the NXF2 gene, from which we concluded that there is no need to screen for mutations in the NXF2 gene in a routine IVF program. |
| Databáze: | OpenAIRE |
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