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Ymittos Athens, Greece

Yapijakis C.,National and Kapodistrian University of Athens | Yapijakis C.,Cephalogenetics Diagnostic Center | Serefoglou Z.,Cephalogenetics Diagnostic Center | Papadimitriou K.,Cephalogenetics Diagnostic Center | Makrinou E.,Institute of Immunology
Andrologia | Year: 2015

Genes located on Y chromosome and expressed in testis are likely to be involved in spermatogenesis. TTTY2 is a Y-linked multicopy gene family of unknown function that includes TTTY2L2A and TTTY2L12A at Yq11 and Yp11 loci respectively. Using PCR amplification, we screened for TTTY2L2A- and TTTY2L12A-associated deletions, in 94 Greek men with fertility problems. Patients were divided into three groups as following: group A (n = 28) included men with idiopathic moderate oligozoospermia, group B (n = 34) with idiopathic severe oligozoospermia and azoospermia, and group C (n = 32) with oligo- and azoospermia of various known etiologies. No deletions were detected in group C patients and 50 fertile controls. However, two patients from group A had deletions in TTTY2L2A (7.1%) and six in TTTY2L12A (21.4%), whereas from group B, four patients had deletions in TTTY2L2A (11.8%) and 10 in TTTY2L12A (29.4%). In addition, five patients from both groups A and B (8%) appeared to have deletions in both studied TTTY2 genes, although these are located very far apart. These results indicate that the TTTY2 gene family may play a significant role in spermatogenesis and suggest a possible mechanism of nonhomologous recombinational events that may cause genomic instability and ultimately lead to male infertility. © 2014 Blackwell Verlag GmbH.

Andreou A.,National and Kapodistrian University of Athens | Papapetrou C.,Neuroendovascular Surgery and Interventional Neuroradiology Clinic | Papadimitriou K.,Cephalogenetics Diagnostic Center | Avgoustidis D.,Evangelismos General Hospital | And 2 more authors.
In Vivo | Year: 2015

Background: Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms. Patients and Methods: A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied. Fifteen patients had a family history of thrombophilia, while two of them had a first-degree relative with an aneurysm. Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects. Results: Genotypic distributions and allelic frequencies were compatible with the Hardy-Weinberg equilibrium. There was no significant difference between healthy individuals and patients in mutant allelic frequencies of thrombophilia mutations. Nevertheless, the mutant allelic frequencies of factor V and II mutations were significantly increased in the sub-group of patients with a positive family history of thrombophilia compared to controls (p≤0.003). Conclusion: Certain thrombophilia-related mutations may contribute to pathogenesis of intracranial aneurysms in a subset of the general population. © 2015, International Institute of Anticancer Research. All rights reserved.

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