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首页> 美国卫生研究院文献>The Journal of Molecular Diagnostics : JMD >A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations
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A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

机译：基于快速聚合酶链反应的筛选方法用于鉴定新生儿和高危人群中的脆弱X（FMR1）基因的所有扩展等位基因

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摘要

Fragile X syndrome, the most common inherited cause of intellectual impairment and the most common single gene associated with autism, generally occurs for fragile X mental retardation 1 (FMR1) alleles that exceed 200 CGG repeats (full-mutation range). Currently, there are no unbiased estimates of the number of full-mutation FMR1 alleles in the general population; a major obstacle is the lack of an effective screening tool for expanded FMR1 alleles in large populations. We have developed a rapid polymerase chain reaction (PCR)-based screening tool for expanded FMR1 alleles. The method utilizes a chimeric PCR primer that targets randomly within the expanded CGG region, such that the presence of a broad distribution of PCR products represents a positive result for an expanded allele. The method is applicable for screening both males and females and for allele sizes throughout the premutation (55 to 200 CGG repeats) and full-mutation ranges. Furthermore, the method is capable of rapid detection of expanded alleles using as little as 1% of the DNA from a single dried blood spot. The methodology presented in this work is suitable for screening large populations of newborn or those at high risk (eg, autism, premature ovarian failure, ataxia, dementia) for expanded FMR1 alleles. The test described herein costs less than $5 per sample for materials; with suitable scale-up and automation, the cost should approach $1 per sample.
机译：脆性X综合征是智力障碍最常见的遗传原因，也是与孤独症相关的最常见的单个基因，通常发生于脆性X智力低下1（FMR1）等位基因，超过200个CGG重复（全突变范围）。目前，尚无一般人群中全突变FMR1等位基因数目的无偏估计。一个主要障碍是缺乏针对大量人群中扩展的FMR1等位基因的有效筛选工具。我们已经开发了一种基于快速聚合酶链反应（PCR）的筛选工具，用于扩展FMR1等位基因。该方法利用了在扩增的CGG区域内随机靶向的嵌合PCR引物，使得PCR产物的广泛分布的存在代表了扩增的等位基因的阳性结果。该方法适用于筛查男性和女性，并适用于整个预突变（55至200个CGG重复）和全突变范围的等位基因大小。此外，该方法能够使用来自单个干血斑的少至1％的DNA快速检测扩增的等位基因。这项工作中介绍的方法适用于筛查大量FMR1等位基因的新生儿或高危人群（例如，自闭症，卵巢早衰，共济失调，痴呆）。本文所述的测试，每个样品的材料成本不到5美元；如果具有适当的放大和自动化功能，每个样品的成本应接近1美元。

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