Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities.
Identifieur interne : 000144 ( Main/Exploration ); précédent : 000143; suivant : 000145Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities.
Auteurs : H L Lobna [Tunisie] ; B. Ali ; A. HammadiSource :
- Andrologia [ 1439-0272 ] ; 2012.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Cystic Fibrosis Transmembrane Conductance Regulator.
- genetics : Azoospermia, Infertility, Male.
- Adult, Chromosome Deletion, Chromosomes, Human, Y, Humans, Male, Polymorphism, Genetic.
Abstract
The aim was to determine the prevalence of compound genetic abnormalities in patients who are carriers of cystic fibrosis transmembrane regulator (CFTR) gene polymorphism and to compare our results with similar patients reported in the literature. One hundred and nine patients were identified to be carriers of CFTR gene polymorphism. Additional genetic testing for karyotype abnormalities or Y chromosome microdeletions (YMD) was performed. Three patients (2.75%) of 109 were identified to have compound genetic abnormalities. One patient had 5T/5T while the other had 6T/6T and the third had 9T/9T. The three patients had deletions of azoospermia factor regions (AZFa+b or AZFa+b+c). There were no karyotype abnormalities identified in our database. In the literature, four patients with compound CFTR mutations and YMD were identified, in three patients had karyotype abnormalities. In conclusion, compound genetic abnormalities in CFTR mutation patients can be a contributing factor when abnormal spermatogenesis is encountered.
DOI: 10.1111/j.1439-0272.2011.01250.x
PubMed: 22191729
Affiliations:
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Ali</name></author><author><name sortKey="Hammadi, A" sort="Hammadi, A" uniqKey="Hammadi A" first="A" last="Hammadi">A. Hammadi</name></author></analytic><series><title level="j">Andrologia</title><idno type="eISSN">1439-0272</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term><term>Azoospermia (genetics)</term><term>Chromosome Deletion (MeSH)</term><term>Chromosomes, Human, Y (MeSH)</term><term>Cystic Fibrosis Transmembrane Conductance Regulator (genetics)</term><term>Humans (MeSH)</term><term>Infertility, Male (genetics)</term><term>Male (MeSH)</term><term>Polymorphism, Genetic (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term><term>Azoospermie (génétique)</term><term>Chromosomes Y humains (MeSH)</term><term>Délétion de segment de chromosome (MeSH)</term><term>Humains (MeSH)</term><term>Infertilité masculine (génétique)</term><term>Mâle (MeSH)</term><term>Polymorphisme génétique (MeSH)</term><term>Protéine CFTR (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cystic Fibrosis Transmembrane Conductance Regulator</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Azoospermia</term><term>Infertility, Male</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Azoospermie</term><term>Infertilité masculine</term><term>Protéine CFTR</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Y</term><term>Humans</term><term>Male</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Chromosomes Y humains</term><term>Délétion de segment de chromosome</term><term>Humains</term><term>Mâle</term><term>Polymorphisme génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim was to determine the prevalence of compound genetic abnormalities in patients who are carriers of cystic fibrosis transmembrane regulator (CFTR) gene polymorphism and to compare our results with similar patients reported in the literature. One hundred and nine patients were identified to be carriers of CFTR gene polymorphism. Additional genetic testing for karyotype abnormalities or Y chromosome microdeletions (YMD) was performed. Three patients (2.75%) of 109 were identified to have compound genetic abnormalities. One patient had 5T/5T while the other had 6T/6T and the third had 9T/9T. The three patients had deletions of azoospermia factor regions (AZFa+b or AZFa+b+c). There were no karyotype abnormalities identified in our database. In the literature, four patients with compound CFTR mutations and YMD were identified, in three patients had karyotype abnormalities. In conclusion, compound genetic abnormalities in CFTR mutation patients can be a contributing factor when abnormal spermatogenesis is encountered.</div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Ali, B" sort="Ali, B" uniqKey="Ali B" first="B" last="Ali">B. Ali</name><name sortKey="Hammadi, A" sort="Hammadi, A" uniqKey="Hammadi A" first="A" last="Hammadi">A. Hammadi</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Lobna, H L" sort="Lobna, H L" uniqKey="Lobna H" first="H L" last="Lobna">H L Lobna</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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