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1
FMR1 triplet arrays: paying the price for perfection.脆性X智力低下基因1三联体阵列：为完美付出代价。
J Med Genet. 1995 Oct;32(10):761-3. doi: 10.1136/jmg.32.10.761.
2
Comment: How many are too many when discussing triplet repeats in the FMR1 gene and the Fragile X syndrome?评论：在讨论FMR1基因中的三联体重复序列和脆性X综合征时，多少算多呢？
Genet Test. 2001 Summer;5(2):139-40. doi: 10.1089/109065701753145619.
3
Apparent FMR1 allele instability in non-fragile X males.
Genet Test. 2000;4(3):241-2. doi: 10.1089/10906570050501443.
4
Triplet repeat polymorphism & fragile X syndrome in the Indian context.印度背景下的三联体重复多态性与脆性X综合征
Indian J Med Res. 1998 Jan;107:29-36.
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[Diagnosis of Martin-Bell syndrome based on an analysis of the structural-functional changes in the 5'-untranslated region of the FMR1 gene].基于对FMR1基因5'非翻译区结构-功能变化分析的马丁-贝尔综合征诊断
Mol Biol (Mosk). 1999 Mar-Apr;33(2):330-6.
6
A fragile balance: FMR1 expression levels.一种脆弱的平衡：FMR1基因表达水平
Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R249-57. doi: 10.1093/hmg/ddg298. Epub 2003 Sep 2.
7
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.一名高功能脆性X男性患者中具有最小甲基化的FMR1完全扩展突变。
J Med Genet. 1996 May;33(5):376-8. doi: 10.1136/jmg.33.5.376.
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Analysis of triplet repeats of the FRAXA locus using a novel sequencing procedure.
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Complex behavior of simple repeats: the fragile X syndrome.
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[Molecular pathogenesis of fragile X syndrome].[脆性X综合征的分子发病机制]
Med Wieku Rozwoj. 2002 Oct-Dec;6(4):295-308.

引用本文的文献

1
Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect.脆性X（CGG）n重复序列在与相连启动子顺式作用时会诱导转录抑制：染色质介导效应的证据。
BMC Mol Biol. 2003 Mar 21;4:3. doi: 10.1186/1471-2199-4-3.
2
The fragile X syndrome.脆性X综合征
J Med Genet. 1998 Jul;35(7):579-89. doi: 10.1136/jmg.35.7.579.
3
Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.克隆的人类FMR1三核苷酸重复序列表现出长度和方向依赖性的不稳定性，提示体内后随链二级结构的存在。
Nucleic Acids Res. 1998 May 15;26(10):2353-8. doi: 10.1093/nar/26.10.2353.

本文引用的文献

1
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.1型脊髓小脑共济失调中存在导致代际CAG重复序列不稳定的机制的证据。
Nat Genet. 1993 Nov;5(3):254-8. doi: 10.1038/ng1193-254.
2
Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.关于日本非智障人群及家族中脆性X位点CGG重复序列的数据表明，存在一个易于发生突变的正常等位基因亚组。
Hum Genet. 1993 Nov;92(5):431-6. doi: 10.1007/BF00216445.
3
Frequency and stability of the fragile X premutation.脆性X前突变的频率与稳定性
Hum Mol Genet. 1994 Mar;3(3):393-8. doi: 10.1093/hmg/3.3.393.
4
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.不间断的CGG重复序列的长度决定了FMR1基因的不稳定性。
Nat Genet. 1994 Sep;8(1):88-94. doi: 10.1038/ng0994-88.
5
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.脆性X智力低下基因1（FMR1）中CGG重复序列明显回归为正常大小的等位基因。
Hum Genet. 1994 Nov;94(5):523-6. doi: 10.1007/BF00211019.
6
Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.
Am J Med Genet. 1994 Jul 15;51(4):417-22. doi: 10.1002/ajmg.1320510423.
7
Haplotype analysis at the FRAXA locus in the Japanese population.日本人群中FRAXA位点的单倍型分析。
Am J Med Genet. 1994 Jul 15;51(4):412-6. doi: 10.1002/ajmg.1320510422.
8
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
Cell. 1994 Jun 17;77(6):853-61. doi: 10.1016/0092-8674(94)90134-1.
9
Precursor arrays for triplet repeat expansion at the fragile X locus.
Hum Mol Genet. 1994 Sep;3(9):1553-60. doi: 10.1093/hmg/3.9.1553.
10
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.脆性X三核苷酸重复序列的序列分析：对脆性X突变起源的启示
Hum Mol Genet. 1994 Sep;3(9):1543-51. doi: 10.1093/hmg/3.9.1543.

脆性X智力低下基因1三联体阵列：为完美付出代价。

FMR1 triplet arrays: paying the price for perfection.

作者信息

Hirst M C

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

出版信息

J Med Genet. 1995 Oct;32(10):761-3. doi: 10.1136/jmg.32.10.761.

DOI:10.1136/jmg.32.10.761
PMID:8558550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051695/
Abstract

Our understanding of FMRI trinucleotide instability has increased dramatically with knowledge of its detailed structures. While most arrays seem to be protected by interspersions, for a few the price of perfection is instability. Although there remain many unanswered questions, diagnosis in the “grey zone” can be greatly improved by studying array content. For the future, as we strive to delineate normal from premutation, we should increasingly be able to estimate rates of instability for future generations and predict the risk of conversion to the full mutation.

摘要

随着对功能磁共振成像（FMRI）三核苷酸不稳定性详细结构的了解，我们对它的认识有了显著提高。虽然大多数阵列似乎受到间隔序列的保护，但对少数阵列而言，完美的代价却是不稳定性。尽管仍有许多问题未得到解答，但通过研究阵列内容，“灰色地带”的诊断可以得到极大改善。展望未来，当我们努力区分正常状态与前突变状态时，我们应该越来越能够估计后代的不稳定性发生率，并预测转变为完全突变的风险。