Absence of mutations in the PCI gene in subfertile men

Molecular Human Reproduction
Judith GianottenJ C Meijers

Abstract

The molecular aetiology of male subfertility is still unknown in the majority of cases and it is thought that multiple genes are involved. One of the genes that might play a role in male reproductive function is the protein C inhibitor (PCI) gene. In mice the presence of PCI is an absolute requirement for reproduction. In this study we performed a mutation screen of the PCI gene in subfertile men with severe teratozoospermia or idiopathic azoospermia. Male partners of subfertile couples with idiopathic azoospermia (n = 27) or teratozoospermia (n = 34) and men with normozoospermia (n = 34) were screened for mutations in the PCI gene by direct sequencing. Nine nucleotide variants found in the patients were not present in the initial control group and were therefore screened in an additional control group of 80 men with normozoospermia by restriction fragment length polymorphism analysis. In addition, PCI antigen levels were measured in the seminal plasma of the patients in which a potential mutation was found. In total, three new variants were exclusively present in men with idiopathic azoospermia, but are not likely to have caused the patients' phenotypes. In addition, the PCI antigen levels in seminal plasma of these three pati...Continue Reading

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Citations

May 26, 2010·The Journal of Biological Chemistry·Gary A SilvermanPhillip I Bird
Sep 22, 2009·Fertility and Sterility·Mona BungumYvonne Lundberg Giwercman
Sep 20, 2006·Journal of Thrombosis and Haemostasis : JTH·L M Beaulieu, F C Church
Sep 20, 2005·Fertility and Sterility·Greg L ChristensenDouglas T Carrell
Jul 31, 2012·Biochimica Et Biophysica Acta·Elias El InatiStéphane Viville
Sep 21, 2017·Human Reproduction·T E van MensS Middeldorp

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