Abstract
The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and their potential role as a cause of azoospermia /cryptozoospermia. The sequencing of the coding region of genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region, was performed in a series of 25 patients with azoospermia or severe oligozoospermia without AZF microdeletions. The exon 3 from the DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database using Blastn and tblastx. 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 had between 97 and 99% homology with the specific protein of every gene, except the DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.
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