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Fırat Tıp Dergisi
2006, Cilt 11, Sayı 1, Sayfa(lar) 033-035
[ Turkish ] [ Tam Metin ] [ PDF ]
FSHR Ala189Val Gene Polymorphisms in Men Presenting with Infertility and Abnormal Semen Analysis
Ebru ETEM1, Faruk KUYUCU2, Arslan ARDIÇOĞLU2, Hüseyin YÜCE1
1Fırat Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı, ELAZIĞ
2Fırat Üniversitesi Tıp Fakültesi Üroloji Anabilim Dalı, ELAZIĞ

Objective: The follicle-stimulating hormone (FSH) is considered essential for folliculogenesis in the female and spermatogenesis in the male. In the male, FSH is generally considered essential for the pubertal initiation of spermatogenesis and maintenance of quantitatively normal sperm production in adults. Mutations of the the follicle stimulating hormone receptor (FSHR) leading to either constituve activation or inactivation of the receptor have been identified. The 566C→T mutation, predicting an alanine to valine substitution, is located in exon 7 of the FSHR gene, in the region encoding the extracellular domain of the receptor molecule. Functional testing showed a clear-cut reduction in ligand binding and signal transduction by the mutated receptor. The purpose of the present study was to investigate in 80 patients with oligospermia which spermiograms were performed according to World Health Organization (WHO) quidelines by the same biologist to presented Ala189Val mutation in the FSHR gene.

Materials and Methods: Ala189Val mutation in the exon7 of the FSHR gene analyzed by Restriction Fragment Lenght Polymorphism (RFLP) method.

Results: No heterozygous or homozygous mutant alleles were present in any of the patients.

Conclusion: Although the number of patients evaluated was small, considering all other previous reports, it seems that except in the Finnish population, proportion of men with Ala189Val mutation in this gene is very low. The Ala189Val mutation of FSHR is not a common polymorphism in Turkish infertil men with oligospermia. These results suggest that the C566T mutation of the FSHR gene is enriched Finland, but is uncommon in other population.©2006, Fırat Üniversitesi, Tıp Fakültesi


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