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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Universidad Nacional de Colombia
2007-05-01
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doaj-01bf4bdae32b44698e503b5487ef01402020-11-24T22:20:05ZspaUniversidad Nacional de ColombiaRevista Colombiana de Biotecnología0123-34751909-87582007-05-015196100530Cytogenetic and molecular screening of the DAZ gene family in a population of infertile malesNubia Amparo Ruiz Suárez0Henry Godoy Silva1Alejandro Giraldo2Fabio A. Aristizabal3Estudiante Posgrado Genética HumanaEstudiante posgrado genética humanaPosgrado genética humanaDepartamento de Farmacia, Facultad de CienciasThe 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; ICSIhttp://www.revistas.unal.edu.co/index.php/biotecnologia/article/view/596azoospermiaoligozoospermiamicrodelecionesICSIazoospermiaoligozoospermiamicrodeletionsICSI |
collection |
DOAJ |
language |
Spanish |
format |
Article |
sources |
DOAJ |
author |
Nubia Amparo Ruiz Suárez Henry Godoy Silva Alejandro Giraldo Fabio A. Aristizabal |
spellingShingle |
Nubia Amparo Ruiz Suárez Henry Godoy Silva Alejandro Giraldo Fabio A. Aristizabal Cytogenetic and molecular screening of the DAZ gene family in a population of infertile males Revista Colombiana de Biotecnología azoospermia oligozoospermia microdeleciones ICSI azoospermia oligozoospermia microdeletions ICSI |
author_facet |
Nubia Amparo Ruiz Suárez Henry Godoy Silva Alejandro Giraldo Fabio A. Aristizabal |
author_sort |
Nubia Amparo Ruiz Suárez |
title |
Cytogenetic and molecular screening of the DAZ gene family in a population of infertile males |
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 |
publisher |
Universidad Nacional de Colombia |
series |
Revista Colombiana de Biotecnología |
issn |
0123-3475 1909-8758 |
publishDate |
2007-05-01 |
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 |
topic |
azoospermia oligozoospermia microdeleciones ICSI azoospermia oligozoospermia microdeletions ICSI |
url |
http://www.revistas.unal.edu.co/index.php/biotecnologia/article/view/596 |
work_keys_str_mv |
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