L138ins 俄罗斯不孕男性中CFTR基因的变异
Vyacheslav Chernykh1,2, Tatyana Sorokina1, Anna Sedova1
1Research Centre for Medical Genetics, 115522 Moscow, Russia.
Genes
|July 29, 2023
概括
L138ins变体是俄罗斯不育男性中第三个最常见的CFTR基因变体,在0.28%的个人中发现. 这一发现对于理解这一群体不孕不育的遗传原因具有重要意义.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 分子生物学分子生物学
背景情况:
- 囊性纤维化 (CF) 和相关疾病是由CFTR基因的致病变体引起的.
- 男人不孕症,特别是由于先天性双侧精管失育 (CBAVD) 的阻塞性亚精,是已知的并发症.
- L138ins变异是一种在斯拉夫人群中普遍存在的轻度CFTR变异,但它在俄罗斯不孕男性中的频率未得到充分研究.
研究的目的:
- 确定L138ins CFTR变异在俄罗斯不育男性队列中的频率和意义.
- 确定常见的CFTR变异及其与俄罗斯人口不孕症的关联.
主要方法:
- 6033名俄罗斯不育男性的基因定型,用于22种常见的CFTR致病变体和IVS9Tn多态位.
- 使用了分子遗传技术,包括AFLP-PCR,MLPA和嵌套PCR.
主要成果:
- 在3.9%的患者中发现了致病性CFTR变异.
- F508del (61.0%) 和CFTRdele2.3 ((21kb) (7.1%) 是最常见的变体.
- 在17个个体 (0.28%) 中发现了L138ins变异,其等位基因频率为0.0014,使其成为该队列中第三个最常见的变异.
结论:
- L138ins CFTR变异在俄罗斯不育男性中是一个重要的发现,在频率上排名第三.
- 这些数据有助于了解斯拉夫人口中男性不孕症的遗传情景.
- 进一步的研究可能会阐明L138ins在男性生殖健康中的特定作用.
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