作者: B Mercier , C Verlingue , W Lissens , SJ Silber , G Novelli
DOI:
关键词: Male infertility 、 Compound heterozygosity 、 Cystic fibrosis 、 Missense mutation 、 Heterozygote advantage 、 Endocrinology 、 Biology 、 Genetics 、 Gene mutation 、 Allele 、 Internal medicine 、 Cystic fibrosis transmembrane conductance regulator
摘要: Congenital bilateral absence of the vas deferens (CBAVD) is an important cause sterility in men. Although genetic basis this condition still unclear, it has been shown recently that some these patients carry mutations their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend observation, we have analyzed entire coding sequence CFTR gene a cohort 67 men with CBAVD, who are otherwise healthy. We identified four novel missense (A800G, G149R, R258G, and E193K). 42% subjects were carriers one allele 24% compound heterozygous for alleles. Thus, unable to identify 76% as carrying two mutations. Furthermore, described segregation haplotypes family CBAVD male; male siblings, identical loci but displaying different phenotypes, them being fertile other sterile. The data presented family, indicating discordance between phenotype marked carrier (delta F508) chromosome, support involvement another gene(s), etiology CBAVD.