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CFTR Gene Variants and Genotypes in Russian Patients with CBAVD Syndrome
Russian Journal of Genetics ( IF 0.6 ) Pub Date : 2020-05-13 , DOI: 10.1134/s1022795420040055 E. G. Marnat , T. A. Adyan , A. A. Stepanova , T. S. Beskorovainaya , A. V. Polyakov , V. B. Chernykh
中文翻译:
俄罗斯CBAVD综合征患者CFTR基因变异和基因型
更新日期:2020-05-13
Russian Journal of Genetics ( IF 0.6 ) Pub Date : 2020-05-13 , DOI: 10.1134/s1022795420040055 E. G. Marnat , T. A. Adyan , A. A. Stepanova , T. S. Beskorovainaya , A. V. Polyakov , V. B. Chernykh
Abstract
CBAVD syndrome is one of the common genetic causes of male infertility, associated with obstructive azoospermia, commonly resulting from pathogenic CFTR gene variants. We examined 72 Russian infertile men with CBAVD syndrome. Molecular analysis of the CFTR gene was performed to detect 22 common pathogenic variants using AFPL and MLPA. IVS8Tn polymorphism in intron 8 of the CFTR gene was analyzed by “nested” PCR. Pathogenic variants were detected in 47 of 72 (65.3%) patients. The most common CFTR gene variants were F508del, CFTRdele2,3(21kb), and W1282X, which are 54.2, 12.5, and 8.2% of all detected pathogenic variants in examined individuals, respectively. The allele 5T (IVS8-T5) variant was found in 39 (54.2%) patients. Totally, pathogenic variants and/or 5T (IVS8-5T) allele of the CFTR gene were detected in 59 of 72 (81.9%) Russian men with CBAVD syndrome. Two CBAVD-related CFTR gene variants, including the 5T allele, were revealed in 32 (44.4%) patients. The results show a high frequency of pathogenic variants and 5T allele (IVS8-T5) polymorphism of the CFTR gene among Russian men with CBAVD syndrome. Russian patients with CBAVD syndrome and cystic fibrosis share the spectrum of pathogenic gene variants, and the prevalence of the 5Т allele and CFTR genotypes are similar to CBAVD patients from other populations.中文翻译:
俄罗斯CBAVD综合征患者CFTR基因变异和基因型