在塞浦路斯,c.489+3A>G变异与p.Cys1400Ter致病性CFTR突变的同分离:流行率和临床影响

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Panayiotis K Yiallouros^1,2, Pinelopi Anagnostopoulou^3,4, Panayiotis Kouis³

¹Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus. pyiall01@ucy.ac.cy.

Orphanet journal of rare diseases

|April 29, 2025

概括

内体c.489+3A>G变异在塞浦路斯经常与p.Cys1400Ter突变共分离,影响囊性纤维化跨膜调节器相关疾病 (CFTR-RD). 进一步分析对于准确的基因咨询对于这种CFTR变异组合至关重要.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
医学科学医学科学医学科学

背景情况:

囊性纤维化 (CF) 由于各种CFTR基因突变而表现出临床异质性.
内部c.489+3A>G变体的致病性值得怀疑,通常与共分离突变有关.
以前的研究表明,与未检测到的突变共同分离,特别是在地中海种群中.

研究的目的:

调查塞浦路斯c.489+3A>G和p.Cys1400Ter变种的流行情况.
描述这些共同分离的CFTR变异在患者和携带者的临床影响.
确定创始人效应是否有助于变种的分布.

主要方法:

在塞浦路斯家庭进行变种查.
对c.489+3A>G和p.Cys1400Ter.的同分离分析
哈普洛型分析以评估共同的祖先.
对已诊断的患者和可疑携带者进行临床数据收集.

主要成果:

在六个塞浦路斯家庭的20个人中,c.489+3A>G变异与p.Cys1400Ter共分离.
三名患者患有CF,两个患有CFTR-RD,四名携带者表现出暗示CFTR-RD的症状.
哈普洛型分析表明,共分离变异的共同哈普洛型,表明创始人效应.

结论:

c.489+3A>G和p.Cys1400Ter变体形成了塞浦路斯的祖先组合,可能是由于创始人效应.
在对c.489+3A>G载体进行遗传咨询之前,包括基因重组在内的广泛的CFTR分析是必不可少的.
需要进一步的研究来澄清这种特定的共同分离的临床影响,即使有功能性CFTR等位基因.

关键词:

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