Artículo

Poli, M.N.; Iriarte, P.F.; Iudica, C.; Mario Zanier, J.H.; Coco, R. "New sequence variations in spermatogenesis candidates genes" (2015) Jornal Brasileiro de Reproducao Assistida. 19(4):216-222
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Abstract:

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. Patients and 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. Conclusions: The variants found have not been described previously, suggesting they could be mutations that might affect protein function. © 2015, Sociedade Brasileira de Reproducao Assistida. All rights reserved.

Registro:

Documento: Artículo
Título:New sequence variations in spermatogenesis candidates genes
Autor:Poli, M.N.; Iriarte, P.F.; Iudica, C.; Mario Zanier, J.H.; Coco, R.
Filiación:Laboratorio de Genética, Departamento de Biología FCEyN, Universidad Nacional de Mardel Plata, Argentina
CONICET-The National Scientific and Technical Research Council, Argentina
Asociación de Génetica Humana (AGHU), Mar del Plata, Argentina
Universidad de Buenos Aires, Argentina
Palabras clave:Male infertility; Spermatogenesis candidate genes new sequence variants; adult; Article; azoospermia; chromosome; gene mutation; human; karyotype; major clinical study; male; male infertility; middle aged; polymerase chain reaction; protein function; sequence analysis; spermatogenesis
Año:2015
Volumen:19
Número:4
Página de inicio:216
Página de fin:222
DOI: http://dx.doi.org/10.5935/1518-0557.20150042
Título revista:Jornal Brasileiro de Reproducao Assistida
Título revista abreviado:J. Bras. Reproducao Assistida
ISSN:15175693
CODEN:JBRAF
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15175693_v19_n4_p216_Poli

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Citas:

---------- APA ----------
Poli, M.N., Iriarte, P.F., Iudica, C., Mario Zanier, J.H. & Coco, R. (2015) . New sequence variations in spermatogenesis candidates genes. Jornal Brasileiro de Reproducao Assistida, 19(4), 216-222.
http://dx.doi.org/10.5935/1518-0557.20150042
---------- CHICAGO ----------
Poli, M.N., Iriarte, P.F., Iudica, C., Mario Zanier, J.H., Coco, R. "New sequence variations in spermatogenesis candidates genes" . Jornal Brasileiro de Reproducao Assistida 19, no. 4 (2015) : 216-222.
http://dx.doi.org/10.5935/1518-0557.20150042
---------- MLA ----------
Poli, M.N., Iriarte, P.F., Iudica, C., Mario Zanier, J.H., Coco, R. "New sequence variations in spermatogenesis candidates genes" . Jornal Brasileiro de Reproducao Assistida, vol. 19, no. 4, 2015, pp. 216-222.
http://dx.doi.org/10.5935/1518-0557.20150042
---------- VANCOUVER ----------
Poli, M.N., Iriarte, P.F., Iudica, C., Mario Zanier, J.H., Coco, R. New sequence variations in spermatogenesis candidates genes. J. Bras. Reproducao Assistida. 2015;19(4):216-222.
http://dx.doi.org/10.5935/1518-0557.20150042