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首页> 外文期刊>American journal of medical genetics, Part A >Expansions and contractions of the FMR1 FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
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Expansions and contractions of the FMR1 FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

机译：FMR1 FMR1 CGG重复在5,508个常规，中间，可放访等位基因传输中重复的扩展和收缩

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摘要

Abstract Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in unstable transmissions of 14/3,335 normal (~5 to 44 repeats), 54/293 intermediate (45–54 repeats), and 1561/1,880 premutation alleles. While most unstable transmissions led to expansions, contractions to smaller repeats were observed in all size classes. For normal alleles, instability was more frequent in paternal transmissions and in alleles with long 3′ uninterrupted repeat lengths. For premutation alleles, contractions also occurred more often in paternal than maternal transmissions and the frequency of paternal contractions increased linearly with repeat size. All paternal premutation allele contractions were transmitted as premutation alleles, but maternal premutation allele contractions were transmitted as premutation, intermediate, or normal alleles. The eight losses of AGG interruptions in the FMR1 repeat occurred exclusively in contractions of maternal premutation alleles. We propose a refined model of FMR1 repeat progression from normal to premutation size and suggest that most normal alleles without AGG interruptions are derived from contractions of maternal premutation alleles.
机译：摘要FMR1重复的不稳定性，通常观察到的热情等位基因（55-200重复），受重复大小的影响，其内部结构和传输父母的性别。我们评估了14 / 3,335正常（〜5至44重量），54/293中间体（45-54重复）和1561/1,880个可预销等位基因中的这三个因素。虽然大多数不稳定的传输导致扩展，但在所有大小的类别中都观察到缩小重复的收缩。对于正常等位基因，在父透射率和长3'不间断重复长度的等位基因中更常见的不稳定。对于可预防等位基因，父母传输的父母的收缩也更常见，并且父亲收缩的频率随着重复尺寸的线性增加。所有父权放注等位基因收缩都被称为可列出等位基因，但孕产妇的热责等位基因收缩被称为可放访，中间体或正常等位基因。 FMR1重复中的AGG中断的八个损失仅发生在孕产妇预防等位基因的收缩中。我们提出了一种从正常的预测大小提出了FMR1重复进展的精致模型，并表明，没有AGG中断的大多数正常等位基因来自孕产妇预征等位基因的收缩。

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