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首页> 外文期刊>Annals of Human Genetics >Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations
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Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations

机译：脆弱的X综合征：FMR1 CGG重复分布在世界人口中

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摘要

Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability, which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by the expansion of the CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. The syndrome has been studied in ethnically diverse populations around the world and has been extensively characterized in several populations. Similar to other trinucleotide expansion disorders, the gene-specific instability of FMR1 is not accompanied by genomic instability. Currently we do not have a comprehensive understanding of the molecular underpinnings of gene-specific instability associated with tandem repeats. Molecular evidence from in vitro experiments and animal models supports several pathways for gene-specific trinucleotide repeat expansion. However, whether the mechanisms reported from other systems contribute to trinucleotide repeat expansion in humans is not clear. To understand how repeat instability in humans could occur, the CGG repeat expansion is explored through molecular analysis and population studies which characterized CGG repeat alleles of FMR1. Finally, the review discusses the relevance of these studies in understanding the mechanism of trinucleotide repeat expansion in FXS.
机译：脆性X综合征（FXS）的特征是中度至重度智力障碍，伴有大兰花症和独特的面部形态。 FXS是由脆弱X智力低下1（FMR1）基因的5'非翻译区中CGG三核苷酸重复序列的扩增引起的。该综合征已在世界各地不同种族的人群中进行了研究，并已在多个人群中得到广泛表征。与其他三核苷酸扩增疾病相似，FMR1的基因特异性不稳定性不会伴随基因组不稳定性。目前，我们对与串联重复相关的基因特异性不稳定性的分子基础还没有全面的了解。来自体外实验和动物模型的分子证据支持基因特异性三核苷酸重复扩增的几种途径。但是，尚不清楚其他系统报道的机制是否有助于人类中三核苷酸重复扩增。为了了解人类中重复序列不稳定性如何发生，通过分子分析和群体研究探讨了CGG重复序列的扩展，这些分子特征和FMR1的CGG重复等位基因为特征。最后，综述讨论了这些研究对理解FXS中三核苷酸重复扩增机制的相关性。

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