In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?
In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?
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DOI：
10.7916/d8ng4np3
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发表时间：
2014-01-01
影响因子：
2.2
通讯作者：
Hall, Deborah A.
中科院分区：
文献类型：
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作者：
Hall, Deborah A.
脆性X智力迟钝1 （FMR1）基因中较小的扩展（41-54个CGG重复）被称为“灰色地带”等位基因。直到最近，由于报道了灰色地带携带者特有的表型或与较大扩展个体相似的表型，人们才对这些扩展感兴趣。由于很少有研究集中在灰色地带的扩展上，本文提出了与该主题相关的几个问题。这些问题包括：灰色地带的定义是什么？这些携带者是否有出现神经症状的风险？是否存在影响灰色地带等位基因的次级基因效应或携带这些重复序列的生物学优势？我们如何建议有灰色地带扩张的患者？这些问题的答案将有助于确定这些扩展的意义，并为研究界和临床医生提供所需的信息。
Smaller expansions (41-54 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene are termed "gray zone'' alleles. Only recently has interest in these expansions increased due to reporting of phenotypes unique to gray zone carriers or similar to those seen in individuals with larger expansions. As minimal research has focused on gray zone expansions, this paper asks several questions related to this topic. These include the following: What is the definition of the gray zone? Is there a risk of developing neurological signs in these carriers? Are there secondary gene effects that impact gray zone alleles or a biologic advantage to carrying these repeats? How do we counsel patients with gray zone expansions? The answers to these questions will help to determine the significance of these expansions and provide needed information to the research community and clinicians.