New sequence variations in spermatogenesis candidates genes

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 B...

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Detalles Bibliográficos
Publicado:	2015
Materias:	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
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15175693_v19_n4_p216_Poli http://hdl.handle.net/20.500.12110/paper_15175693_v19_n4_p216_Poli
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_15175693_v19_n4_p216_Poli
record_format	dspace
spelling	paper:paper_15175693_v19_n4_p216_Poli2023-06-08T16:18:40Z New sequence variations in spermatogenesis candidates genes 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 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. 2015 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15175693_v19_n4_p216_Poli http://hdl.handle.net/20.500.12110/paper_15175693_v19_n4_p216_Poli
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	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
spellingShingle	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 New sequence variations in spermatogenesis candidates genes
topic_facet	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
description	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.
title	New sequence variations in spermatogenesis candidates genes
title_short	New sequence variations in spermatogenesis candidates genes
title_full	New sequence variations in spermatogenesis candidates genes
title_fullStr	New sequence variations in spermatogenesis candidates genes
title_full_unstemmed	New sequence variations in spermatogenesis candidates genes
title_sort	new sequence variations in spermatogenesis candidates genes
publishDate	2015
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15175693_v19_n4_p216_Poli http://hdl.handle.net/20.500.12110/paper_15175693_v19_n4_p216_Poli
_version_	1768544464532406272

New sequence variations in spermatogenesis candidates genes

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