New Sequence Variations in Spermatogenesis Candidates Genes

Abstract

The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and its potential value as a cause of azoospermia / cryptozoospermia.Patients and Methods: the sequencing of the coding region of the genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region was performed in a series of 25 patients with azoospeermia or severe oligozoospermia without AZF microdeletions. Exon 3 of DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database through Blastn and tblastx.Results and conclusions: 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and / or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences presented between 97 and 99% homology with the specific protein of every gene, except in DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.