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首页> 外文期刊>Annals of Human Genetics >CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries
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CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

机译：西班牙囊性纤维化患者的CFTR重排：地中海国家中首次出现新的重复（35kb）

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摘要

Developments in quantitative PCR technologies have greatly improved our ability to detect large genome rearrangements. In particular oligonucleotide-based array comparative genomic hybridisation has become a useful tool for appropriate and rapid detection of breakpoints. In this work, we have analysed 80 samples (42 unknown CF alleles) applying three quantitative technologies (MLPA, qPCR and array-CGH) to detect recurrent as well as novel large rearrangements in the Spanish CF population. Three deletions and one duplication have been identified in five alleles (12%). Interestingly, we provide the comprehensive characterisation of the first duplication in our CF cohort. The new CFTRdupProm-3 mutation spans 35.7 kb involving the 5'-end of the CFTR gene. Additionally, the RNA analysis has revealed a cryptic sequence with a premature termination codon leading to a disrupted protein. This duplication has been identified in five unrelated families from Spain, France and Italy with all patients showing the same associated haplotype, which is further evidence for its likely common Mediterranean origin. Overall, considering this and other previous studies, CFTR rearrangements account for 1.3% of the Spanish CF alleles.
机译：定量PCR技术的发展极大地提高了我们检测大型基因组重排的能力。特别地，基于寡核苷酸的阵列比较基因组杂交已经成为用于适当和快速检测断点的有用工具。在这项工作中，我们使用三种定量技术（MLPA，qPCR和array-CGH）分析了80个样品（42个未知的CF等位基因），以检测西班牙CF人群中的复发性和新颖性大的重组。在五个等位基因（12％）中鉴定出三个缺失和一个重复。有趣的是，我们提供了CF队列中第一个重复项的全面特征。新的CFTRdupProm-3突变跨越35.7 kb，涉及CFTR基因的5'端。此外，RNA分析还揭示了一个密码子序列，该密码子带有一个过早的终止密码子，导致了蛋白质的破坏。已经在来自西班牙，法国和意大利的五个无关家庭中发现了这种重复，所有患者均显示出相同的相关单倍型，这进一步证明了其可能起源于地中海。总体而言，考虑到本研究和其他先前研究，CFTR重排占西班牙CF等位基因的1.3％。

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