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Article

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

Journal of medical genetics - 1 Jul 1998

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M

Abstract excerpt

Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of intron 8, which induces high levels of exon 9 skipping leading to non-functional protein. However, this 5T variant has incomplete penetrance and variable...

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Identifiers

PMID: 9678705
DOI: 10.1136/jmg.35.7.594
PMCID: PMC1051371

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.PMID 9678705Read ↗

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene.Semantic proximity Read ↗

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.Semantic proximity Read ↗

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

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Screening of ΔF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD.Semantic proximity Read ↗

Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

[Correlation between CFTR 5T polymorphisms and the risk of congenital bilateral absence of the vas deferens].Semantic proximity Read ↗

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Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.Semantic proximity Read ↗

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