Estudio mutacional del gen HSPA2 en pacientes estériles y en controles

Abstract

Objectives We started the present work to perform a mutational study on the HSPA2 gene in different types of infertile patients. The rationale for this work is based on the results of previous studies which suggest that the HSPA2 gene may be a candidate gene to explain some of the cases of infertility. Methods We included a total of 29 patients of whom 16 were azoospermic, 6 severe oligoasthenoteratozoospermic, and 7 teratozoospermic. Also 4 fertility proven controls were included. Different oligonucleotides were designed and the conditions were standardized to obtain a specific gene amplification of the HSPA2 gene using PCR. The amplification products were sequenced directly and analysed using an automatic sequencer. Results No pathogenic mutations were detected in the samples analyzed. However, three SNPs (single nucleotide polymorphisms) were detected of which one of them had not been previously described (HSPA2 c.1443 C>T) and was observed in an azoospermic patient and in one oligoastenoteratozoospermic patient. The allelic frequency of the 684 T allele was found to be increased within the group of azoospermic patients (0.687) as compared to that present in the rest of the patients (0.308; P<.005). Discussion The results from the present study suggest that the presence of pathogenic mutations in the HSPA2 gene, if any, should be a relatively uncommon cause of infertility in infertile patients. Of the polymorphisms detected, the change 684 C>T has been detected at a significantly increased allelic frequency, suggesting that this polymorphism may be as a risk factor for azoospermia. The possibility is now open to confirm these findings in subsequent studies using the oligonucleotides and conditions described in a larger group of patients and controls.