当前位置: X-MOL 学术Russ. J. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
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

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 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

摘要

CBAVD综合征是男性不育的常见遗传原因之一,与阻塞性无精子症有关,通常由致病性CFTR基因变异引起。我们检查了72名CBAVD综合征的俄罗斯不育男性。使用AFPL和MLPA对CFTR基因进行了分子分析,以检测22种常见的致病变异。通过“嵌套” PCR分析了CFTR基因内含子8中的IVS8Tn多态性。在72名患者中有47名(65.3%)检出了致病变异。最常见的CFTR基因变异是F508delCFTRdele2,3(21kb)W1282X,分别是受检个体中所有检测到的致病变异的54.2%,12.5%和8.2%。在39名(54.2%)患者中发现了等位基因5TIVS8-T5)变异体。总计,在72名(81.9%)患有CBAVD综合征的俄罗斯男性中,有59人检测到CFTR基因的致病变异和/或5T(IVS8-5T)等位基因。在32名(44.4%)患者中发现了两个与CBAVD相关的CFTR基因变异,包括5T等位基因。结果表明CFTR的致病变异和5T等位基因(IVS8-T5)多态性的频率高。患有CBAVD综合征的俄罗斯男性中的基因。具有CBAVD综合征和囊性纤维化的俄罗斯患者共享致病基因变异谱,并且等位基因和CFTR基因型的患病率与其他人群的CBAVD患者相似。
更新日期:2020-05-13
down
wechat
bug