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Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.脆性X相关表观遗传元件的甲基化分析可能为脆性X综合征提供一种合适的新生儿筛查测试。
Genet Med. 2010 Sep;12(9):595. doi: 10.1097/GIM.0b013e3181f07088.
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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.脆性 X 相关元件 2 甲基化分析可能为将脆性 X 综合征和/或性染色体非整倍体纳入新生儿筛查提供合适的选择：一项技术验证研究。
Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11.
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The epigenetics of fragile X syndrome.脆性X综合征的表观遗传学
Cell Stem Cell. 2007 Nov;1(5):488-9. doi: 10.1016/j.stem.2007.10.017.
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Testing for fragile X gene mutations throughout the life span.终生检测脆性X基因突变。
JAMA. 2008 Nov 26;300(20):2419-21. doi: 10.1001/jama.2008.684.
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Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.脆性X综合征合并完全突变退缩的产前诊断。
Am J Med Genet A. 2015 Oct;167A(10):2485-7. doi: 10.1002/ajmg.a.37163. Epub 2015 May 18.
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Monitoring for Epigenetic Modifications at the FMR1 Locus.监测脆性X智力低下基因1（FMR1）位点的表观遗传修饰
Methods Mol Biol. 2019;1942:29-48. doi: 10.1007/978-1-4939-9080-1_3.
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Challenges in prenatal screening and counselling for fragile X syndrome.脆性X综合征产前筛查与咨询面临的挑战。
Hong Kong Med J. 2017 Apr;23(2):108-9. doi: 10.12809/hkmj175064.
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Epigenetics of fragile X syndrome and fragile X-related disorders.脆性 X 综合征及相关疾病的表观遗传学
Dev Med Child Neurol. 2019 Feb;61(2):121-127. doi: 10.1111/dmcn.13985. Epub 2018 Aug 7.
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DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.出生时的 DNA 甲基化可预测脆性 X 综合征患儿的智力功能和自闭症特征。
Int J Mol Sci. 2020 Oct 19;21(20):7735. doi: 10.3390/ijms21207735.
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A faster strategy for prenatal diagnosis of fragile X syndrome.
Prenat Diagn. 2010 Dec;30(12-13):1217-9. doi: 10.1002/pd.2617.
引用本文的文献
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.通过绒毛膜绒毛取样，对一名女性及其胎儿的 DNA 进行 Southern 印迹杂交，检测隐匿性脆性 X 完全突变等位基因，该女性存在 45,X0/46,XX/47,XXX 嵌合体。
Genes (Basel). 2021 May 24;12(6):798. doi: 10.3390/genes12060798.
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Clinical and molecular correlates in fragile X premutation females.脆性X前突变女性的临床与分子关联
eNeurologicalSci. 2017 Jun;7:49-56. doi: 10.1016/j.ensci.2017.04.003. Epub 2017 Apr 11.
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Recent advances in assays for the fragile X-related disorders.脆性X相关疾病检测方法的最新进展。
Hum Genet. 2017 Oct;136(10):1313-1327. doi: 10.1007/s00439-017-1840-5. Epub 2017 Sep 2.
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Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.脑结构与基因内DNA甲基化相关，并可预测脆性X前突变女性的执行功能障碍。
Transl Psychiatry. 2016 Dec 13;6(12):e984. doi: 10.1038/tp.2016.250.
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A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.一组用于脆性X相关疾病中FMR1等位基因综合分析的检测方法。
J Mol Diagn. 2016 Sep;18(5):762-774. doi: 10.1016/j.jmoldx.2016.06.001. Epub 2016 Aug 12.
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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.脆性 X 综合征：病因、诊断、机制和治疗。
J Clin Invest. 2012 Dec;122(12):4314-22. doi: 10.1172/JCI63141. Epub 2012 Dec 3.
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FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.FMR1 内含子 1 甲基化可预测扩增 FMR1 等位基因女性携带者血液中的 FMRP 表达。
J Mol Diagn. 2011 Sep;13(5):528-36. doi: 10.1016/j.jmoldx.2011.05.006. Epub 2011 Jun 30.
本文引用的文献
1
Commentary on population screening for fragile X syndrome.
Genet Med. 2010 Jul;12(7):411-2. doi: 10.1097/GIM.0b013e3181e5c804.
2
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.新型脆性 X 等位基因标志物的甲基化与 FMRP 表达和 FMR1 激活率呈负相关。
Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29.
3
Advances in the treatment of fragile X syndrome.脆性X综合征治疗进展
Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317.
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