Cytogenetic and molecular screening of the daz gene family in a population of infertile males

The purpose of this study was to evalúate the frequency of Y chromosome structural, numerical, chromosomal and genetic abnormalities, as well as DAZ gene microdeletions in the Y chromosome in a population of infertile males. Genetic abnormalities have been established to date in up to 24% of males h...

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Autores:
Ruiz Suárez, Nubia Amparo
Godoy Silva, Henry
Giraldo, Alejandro
Aristizábal Gutiérrez, Fabio Ancízar
Tipo de recurso:
Article of journal
Fecha de publicación:
2003
Institución:
Universidad Nacional de Colombia
Repositorio:
Universidad Nacional de Colombia
Idioma:
spa
OAI Identifier:
oai:repositorio.unal.edu.co:unal/22189
Acceso en línea:
https://repositorio.unal.edu.co/handle/unal/22189
http://bdigital.unal.edu.co/13223/
Palabra clave:
azoospermia
oligozoospermia
microdeleciones
ICSI
azoospermia
oligozoospermia
microdeletions
ICSI
Rights
closedAccess
License
Atribución-NoComercial 4.0 Internacional
id UNACIONAL2_22d19a23015e3cb87a11945361cf3d95
oai_identifier_str oai:repositorio.unal.edu.co:unal/22189
network_acronym_str UNACIONAL2
network_name_str Universidad Nacional de Colombia
repository_id_str
dc.title.spa.fl_str_mv Cytogenetic and molecular screening of the daz gene family in a population of infertile males
title Cytogenetic and molecular screening of the daz gene family in a population of infertile males
spellingShingle Cytogenetic and molecular screening of the daz gene family in a population of infertile males
azoospermia
oligozoospermia
microdeleciones
ICSI
azoospermia
oligozoospermia
microdeletions
ICSI
title_short Cytogenetic and molecular screening of the daz gene family in a population of infertile males
title_full Cytogenetic and molecular screening of the daz gene family in a population of infertile males
title_fullStr Cytogenetic and molecular screening of the daz gene family in a population of infertile males
title_full_unstemmed Cytogenetic and molecular screening of the daz gene family in a population of infertile males
title_sort Cytogenetic and molecular screening of the daz gene family in a population of infertile males
dc.creator.fl_str_mv Ruiz Suárez, Nubia Amparo
Godoy Silva, Henry
Giraldo, Alejandro
Aristizábal Gutiérrez, Fabio Ancízar
dc.contributor.author.spa.fl_str_mv Ruiz Suárez, Nubia Amparo
Godoy Silva, Henry
Giraldo, Alejandro
Aristizábal Gutiérrez, Fabio Ancízar
dc.subject.proposal.spa.fl_str_mv azoospermia
oligozoospermia
microdeleciones
ICSI
azoospermia
oligozoospermia
microdeletions
ICSI
topic azoospermia
oligozoospermia
microdeleciones
ICSI
azoospermia
oligozoospermia
microdeletions
ICSI
description The purpose of this study was to evalúate the frequency of Y chromosome structural, numerical, chromosomal and genetic abnormalities, as well as DAZ gene microdeletions in the Y chromosome in a population of infertile males. Genetic abnormalities have been established to date in up to 24% of males having severe abnormalities in their sperm (Dohle et al. 2002); deletion of the DAZ gene family (deleted in azoospermia) is the most common cause. It has been found in 6% of the oligozoospermias and in 12% of the azoospermias (Van Landuyt et al. 2000). A popula­tion of 20 azoospermic and 10 oligozoospermic males was studied. Five males having normal sperm parameters were used as controls. Each sample was karyotyped (QFQ banding) and underwent sY254, sY255 and sY257 mo­lecular amplification. Genetic study revealed alterations in 16.6% of the cases: 6.6% at chromosome level and 10% at molecule level. No chromosomal or molecular gene alterations were detected in control males. The frequencies found lead to a broader population-based study being recommended. They confirmed the need for performing judicious genetic counselling in infertile couples with male factor infertility to avoid or minimise the risks of trans-mitting these abnormalities to offspring and provide better prognosis for assisted reproductive techniques in such patients. Key words: azoospermia; oligozoospermia; microdeletions; ICSI
publishDate 2003
dc.date.issued.spa.fl_str_mv 2003
dc.date.accessioned.spa.fl_str_mv 2019-06-25T20:33:52Z
dc.date.available.spa.fl_str_mv 2019-06-25T20:33:52Z
dc.type.spa.fl_str_mv Artículo de revista
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.driver.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.version.spa.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.coarversion.spa.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.content.spa.fl_str_mv Text
dc.type.redcol.spa.fl_str_mv http://purl.org/redcol/resource_type/ART
format http://purl.org/coar/resource_type/c_6501
status_str publishedVersion
dc.identifier.uri.none.fl_str_mv https://repositorio.unal.edu.co/handle/unal/22189
dc.identifier.eprints.spa.fl_str_mv http://bdigital.unal.edu.co/13223/
url https://repositorio.unal.edu.co/handle/unal/22189
http://bdigital.unal.edu.co/13223/
dc.language.iso.spa.fl_str_mv spa
language spa
dc.relation.spa.fl_str_mv http://revistas.unal.edu.co/index.php/biotecnologia/article/view/596
dc.relation.ispartof.spa.fl_str_mv Universidad Nacional de Colombia Revistas electrónicas UN Revista Colombiana de Biotecnología
Revista Colombiana de Biotecnología
dc.relation.ispartofseries.none.fl_str_mv Revista Colombiana de Biotecnología; Vol. 5, núm. 1 (2003); 96-100 1909-8758 0123-3475
dc.relation.references.spa.fl_str_mv Ruiz Suárez, Nubia Amparo and Godoy Silva, Henry and Giraldo, Alejandro and Aristizábal Gutiérrez, Fabio Ancízar (2003) Cytogenetic and molecular screening of the daz gene family in a population of infertile males. Revista Colombiana de Biotecnología; Vol. 5, núm. 1 (2003); 96-100 1909-8758 0123-3475 .
dc.rights.spa.fl_str_mv Derechos reservados - Universidad Nacional de Colombia
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_14cb
dc.rights.license.spa.fl_str_mv Atribución-NoComercial 4.0 Internacional
dc.rights.uri.spa.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.accessrights.spa.fl_str_mv info:eu-repo/semantics/closedAccess
rights_invalid_str_mv Atribución-NoComercial 4.0 Internacional
Derechos reservados - Universidad Nacional de Colombia
http://creativecommons.org/licenses/by-nc/4.0/
http://purl.org/coar/access_right/c_14cb
eu_rights_str_mv closedAccess
dc.publisher.spa.fl_str_mv Universidad Nacional de Colombia
institution Universidad Nacional de Colombia
repository.name.fl_str_mv Repositorio Institucional Universidad Nacional de Colombia
repository.mail.fl_str_mv repositorio_nal@unal.edu.co
_version_ 1814089745952669696
spelling Atribución-NoComercial 4.0 InternacionalDerechos reservados - Universidad Nacional de Colombiahttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/closedAccesshttp://purl.org/coar/access_right/c_14cbRuiz Suárez, Nubia Amparo90df8908-d2b8-4fcc-ab72-0246d69e0aea300Godoy Silva, Henryd009e9d7-d8e1-4aa7-8b5e-9d2d0139597e300Giraldo, Alejandro9d84f8e2-6389-43ce-9770-24ed4d4afa35300Aristizábal Gutiérrez, Fabio Ancízar7e502de9-8dc1-497d-b3ec-52803130a49a3002019-06-25T20:33:52Z2019-06-25T20:33:52Z2003https://repositorio.unal.edu.co/handle/unal/22189http://bdigital.unal.edu.co/13223/The purpose of this study was to evalúate the frequency of Y chromosome structural, numerical, chromosomal and genetic abnormalities, as well as DAZ gene microdeletions in the Y chromosome in a population of infertile males. Genetic abnormalities have been established to date in up to 24% of males having severe abnormalities in their sperm (Dohle et al. 2002); deletion of the DAZ gene family (deleted in azoospermia) is the most common cause. It has been found in 6% of the oligozoospermias and in 12% of the azoospermias (Van Landuyt et al. 2000). A popula­tion of 20 azoospermic and 10 oligozoospermic males was studied. Five males having normal sperm parameters were used as controls. Each sample was karyotyped (QFQ banding) and underwent sY254, sY255 and sY257 mo­lecular amplification. Genetic study revealed alterations in 16.6% of the cases: 6.6% at chromosome level and 10% at molecule level. No chromosomal or molecular gene alterations were detected in control males. The frequencies found lead to a broader population-based study being recommended. They confirmed the need for performing judicious genetic counselling in infertile couples with male factor infertility to avoid or minimise the risks of trans-mitting these abnormalities to offspring and provide better prognosis for assisted reproductive techniques in such patients. Key words: azoospermia; oligozoospermia; microdeletions; ICSIEl propósito de este estudio fue evaluar la frecuencia de alteraciones genéticas cromosómicas numéricas y estruc­turales, junto con las microdeleciones del gen DAZ en el cromosoma Y de una población de pacientes infértiles; hasta ahora se ha establecido la presencia de anormalidades genéticas en el 24% de los hombres que presentan alteraciones espermáticas severas (Dohle et al. 2002), la deleción de la familia de genes DAZ (Deletec in Azoospermia) es la causa más común; se ha encontrado en el 6% de las oligozoospermias y el 12% de las azoospermias (Van Landuyt et al. 2000). Se estudió una población de 20 pacientes azoospérmicos y 10 oligozoospérmicos empleando como controles 5 hombres con semen normal, a cada muestra se le efectuó análisis cromosómico por banda QFQ y molecular por amplificación de sY254, sY255 y sY257. Al realizar el estudio genético se encontró alteraciones en el 16.6% de los casos, un 6.6% a nivel cromosómico y un 10% a nivel molecular. No se observó ninguna alteración cromosómica ni molecular en las muestras control. Las frecuencias encontradas conducen a una ampliación de la población en estudio y a ratificar la necesidad de realizar un prediagnóstico y asesoría genética a las parejas infértiles con el fin de evitar la propagación de los defectos y brindar un mejor pronóstico de los procedimientos de repro­ducción asistida. Palabras clave: azoospermia; oligozoospermia; microdeleciones; ICSIspaUniversidad Nacional de Colombiahttp://revistas.unal.edu.co/index.php/biotecnologia/article/view/596Universidad Nacional de Colombia Revistas electrónicas UN Revista Colombiana de BiotecnologíaRevista Colombiana de BiotecnologíaRevista Colombiana de Biotecnología; Vol. 5, núm. 1 (2003); 96-100 1909-8758 0123-3475Ruiz Suárez, Nubia Amparo and Godoy Silva, Henry and Giraldo, Alejandro and Aristizábal Gutiérrez, Fabio Ancízar (2003) Cytogenetic and molecular screening of the daz gene family in a population of infertile males. Revista Colombiana de Biotecnología; Vol. 5, núm. 1 (2003); 96-100 1909-8758 0123-3475 .Cytogenetic and molecular screening of the daz gene family in a population of infertile malesArtículo de revistainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Texthttp://purl.org/redcol/resource_type/ARTazoospermiaoligozoospermiamicrodelecionesICSIazoospermiaoligozoospermiamicrodeletionsICSIunal/22189oai:repositorio.unal.edu.co:unal/221892021-04-23 10:31:12.762Repositorio Institucional Universidad Nacional de Colombiarepositorio_nal@unal.edu.co

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