Re: Lu et al.: Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of the vas deferens and other acquired obstructive azoospermia (Urology 2013;82:824-828)

摘要

An article entitled "Different Cystic Fibrosis Trans-membrane Conductance Regulator Mutations in Chinese Men With Congenital Bilateral Absence of the Vas Deferens and Other Acquired Obstructive Azoospermia" was recently published in this journal.1 Deoxyribonucleic acid (DNA) samples of 601 Chinese men (158 congenital bilateral absence of the vas deferens [CBAVD], 243 other acquired obstructive azoospermia, 200 controls) were examined in this study. Exons 10 and 11 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene were sequenced to identify disease-associated mutations. In the CBAVD group, 6 heterozygous (I556V, M469V, E527N, F508del, S485C, and I558S) and 1 homozygous mutation (I556V) were detected. Eleven acquired obstructive azoospermia patients carried the 1556V or the M469V mutations in heterozygous form. Mutation frequency was 12.7% in the CBAVD group, and no mutations were identified in the controls. On the basis of these results, the authors concluded "I556V is the major common type of CFTR mutations in Chinese patients with CBAVD".