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Abstract：
Complex alleles (CAs) arise when two or more nucleotide variants are present on a single allele. CAs of the CFTR gene complicate the cystic fibrosis diagnosis process, classification of pathogenic variants, and determination of the clinical picture of the disease and increase the need for additional studies to determine their pathogenicity and modulatory effect in response to targeted therapy. For several different populations around the world, characteristic CAs of the CFTR gene have been discovered, although in general the prevalence and pathogenicity of CAs have not been sufficiently studied. This review presents examples of using intestinal organoid models for assessments of the two most common and two rare CFTR CAs in individuals with cystic fibrosis in Russia.
摘要：
当两个或更多个核苷酸变体存在于单个等位基因上时,出现复杂等位基因(CA)。CFTR基因的CAs使囊性纤维化诊断过程复杂化，致病性变异的分类，并确定疾病的临床表现，并增加了对其他研究的需求，以确定其对靶向治疗的致病性和调节作用。对于世界各地不同的人群，CFTR基因的特征性CA已被发现，尽管总体而言，CA的患病率和致病性尚未得到充分研究。这篇综述提供了使用肠道类器官模型评估俄罗斯囊性纤维化患者中两种最常见和两种罕见的CFTRCA的示例。
