Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
复制标题
先天性双侧附睾或输精管发育不全的无精子症男性的整个 CFTR 编码区和剪接点分析
作者：
J. Culard;M. Desgeorges;Pierre Costa;M. Laussel;Gaby Razakatzara;H. Navratil;J. Demaille;M. Claustres
Several recent studies have demonstrated the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in healthy males with infertility caused by congenital absence of the vas deferens (CBAVD), previously recognized as an idiopathic genetic condition distinct from CF. In order to document further the genetic commonality of these two disorders, we undertook a double screening of the entire coding and flanking sequences of the CFTR gene, by using single-strand conformational polymorphism analysis and denaturing gradient gel electrophoresis in 12 unrelated infertile men with abnormalities of the vas deferens and/or epididymis. This strategy allowed us to identify 11 DNA sequence alterations considered as CF-causing mutations and several variations. Despite this double analysis, only two patients out of eight with CBAVD could be demonstrated as compound heterozygotes for CF mutations.
DOI：
10.1001/jama.1992.03480130110034
发表时间：
1992-04
期刊：
JAMA
影响因子：
--
作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.
通讯作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.