New Sequence Variations in Spermatogenesis Candidates Genes
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Published on: January 14, 2021
María Noelia Poli1,2,3, Pedro Fernández Iriarte1,2, Celia Iudica1,3
1Laboratorio de Genética, Departamento de Biología FCEyN, Universidad Nacional de Mar del Plata. Argentina.
Objective:
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.
Methods:
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.
Results:
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.
Conclusion:
The variants found have not been described previously, suggesting they could be mutations that might affect protein function.
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