NEW SEQUENCE VARIATIONS IN SPERMATOGENESIS CANDIDATES GENES

POLI, N; FERNÁNDEZ IRIARTE P.; IUDICA C; G. ZANIER; GALLEGO M.; R. COCO

JBRA Assisted Reproduction

JBRA

Año: 2015 vol. 19

1518 0557

Objective: 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.