Source:http://linkedlifedata.com/resource/pubmed/id/18616886
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2008-7-11
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| pubmed:abstractText |
Mutations of the cystic fibrosis transmembrane regulator (CFTR) gene and polymorphisms, such as the (TG)m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9, can cause male infertility. The aim of this study was to investigate the frequency of the most prevalent cystic-fibrosis-causing mutations, the IVS8-Tn alleles and IVS8-TG12 variant in the presence of IVS8-5T in patients with altered semen parameters (group I with obstructive azoospermia, group II with secretory azoospermia and group III with severe oligozoospermia) compared with a control group with normozoospermia. CFTR mutations were found in 26.5% and 14.3% of chromosomes of patients of group I and II respectively (P < 0.001, P < 0.05). The frequency of the 5T allele was 23.5% in patients in group I (P < 0.01), and was linked exclusively with TG12 allele. The present study reports for the first time a high proportion of the 5T allele in patients in group III (9.2%, P < 0.05). These results underline the importance of performing molecular analysis of mutations and IVS8-Tn polymorphism in the CFTR gene and appropriate genetic counselling to all couples undergoing assisted reproductive technologies when the partner has azoospermia or severe oligozoospermia.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
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| pubmed:issn |
1472-6491
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
17
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
27-35
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| pubmed:meshHeading |
pubmed-meshheading:18616886-Alleles,
pubmed-meshheading:18616886-Azoospermia,
pubmed-meshheading:18616886-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:18616886-DNA Mutational Analysis,
pubmed-meshheading:18616886-Exons,
pubmed-meshheading:18616886-Genetic Counseling,
pubmed-meshheading:18616886-Genotype,
pubmed-meshheading:18616886-Humans,
pubmed-meshheading:18616886-Infertility, Male,
pubmed-meshheading:18616886-Introns,
pubmed-meshheading:18616886-Male,
pubmed-meshheading:18616886-Mutation,
pubmed-meshheading:18616886-Oligospermia,
pubmed-meshheading:18616886-Polymorphism, Genetic,
pubmed-meshheading:18616886-Sperm Count
|
| pubmed:year |
2008
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| pubmed:articleTitle |
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
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| pubmed:affiliation |
Unità di Medicina della Riproduzione - Fondazione HERA, Viale Marco Polo 39/A, 95126 Catania, Italy.
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| pubmed:publicationType |
Journal Article
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