Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2024 Nov 10;41(11):1290-1295. doi: 10.3760/cma.j.cn511374-20230910-00123 0.02025

[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing]

基于纳米孔长读段测序的脆性X综合征家系甲基化表观遗传分析翻译改进

Article in Chinese

Conghui Wang¹, Panlai Shi, Li'na Liu, Xuechao Zhao, Xiangdong Kong

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¹ Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.

DOI: 10.3760/cma.j.cn511374-20230910-00123 PMID: 39528277

摘要中英对照阅读

Objective: To explore the genetic basis for a Chinese pedigree affected with Fragile X syndrome (FXS) through Nanopore long-read sequencing. Methods: A FXS pedigree who had undergone genetic counseling at the First Affiliated Hospital of Zhengzhou University in April 2023 was selected as the study subject. Nanopore long-read sequencing, trip... ...点击完成人机验证后继续浏览

目的：通过纳米孔长读段测序探索一个受脆性X综合症（FXS）影响的中国家系的遗传基础。

方法：选择2023年4月在郑州大学第一附属医院接受过遗传咨询的一个FXS家系作为研究对象。使用纳米孔长读段测序、三联体重复引物PCR（TP-PCR）、甲基化特异性多重连接依赖性探针扩增（MS-MLPA）和雄激素受体（AR）基因的三核苷酸多态性分型来分析家系成员FMR1 CGG重复次数、甲基化情况以及X染色体失活。该研究已获得郑州大学第一附属医院医学伦理委员会批准（编号：KS-2018-KY-36）。

结果：患者被检测出完全突变和CpG岛高甲基化。患者的姐姐在一个X染色体上发现FMR1基因的完全突变及CpG岛高甲基化，而在另一个X染色体上的FMR1基因则是正常的。患者的母亲则被检测出FMR1前突变。

结论：纳米孔长读段测序能够同时检测女性两个X染色体上FMR1基因的动态突变和甲基化状态，这对不同性别FXS的确诊具有重要的价值。

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期刊名：Chinese journal of medical genetics

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ISSN：1003-9406

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[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing]

基于纳米孔长读段测序的脆性X综合征家系甲基化表观遗传分析翻译改进

Nationwide multicentre study of Nanopore long-read sequencing for 16S rRNA-species identification

基于纳米孔长读段测序的16S rRNA物种鉴定的全国多中心研究

Nanopore Long-Read Sequencing Solves the Conundrum of FLG Genetics

纳米孔长读段测序解决了FLG基因的难题

NanoGalaxy: Nanopore long-read sequencing data analysis in Galaxy

NanoGalaxy：在Galaxy中分析纳米孔长读段测序数据

Engineering psychrophilic polymerase for nanopore long-read sequencing

工程改造耐冷聚合酶用于纳米孔长读段测序

Enhancing novel isoform discovery: leveraging nanopore long-read sequencing and machine learning approaches

利用纳米孔长读测序和机器学习方法改进新异构体的发现能力

De Novo Structural Variations of Escherichia coli Detected by Nanopore Long-Read Sequencing

基于纳米孔长读段测序的新出现的大肠杆菌结构变异检测研究

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

通过靶向纳米孔长读测序诊断普拉德-威利综合征和安格尔曼综合征

De-novo whole genome assembly of the orange jewelweed, Impatiens capensis Meerb. (Balsaminaceae) using nanopore long-read sequencing

基于纳米孔长读段测序的橙色瓢唇花（Impatiens capensis Meerb.(金丝桃科）从头全基因组草图组装

[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing]

基于纳米孔长读段测序的脆性X综合征家系甲基化表观遗传分析 翻译改进

Nationwide multicentre study of Nanopore long-read sequencing for 16S rRNA-species identification

基于纳米孔长读段测序的16S rRNA物种鉴定的全国多中心研究

Nanopore Long-Read Sequencing Solves the Conundrum of FLG Genetics

纳米孔长读段测序解决了FLG基因的难题

NanoGalaxy: Nanopore long-read sequencing data analysis in Galaxy

NanoGalaxy：在Galaxy中分析纳米孔长读段测序数据

Engineering psychrophilic polymerase for nanopore long-read sequencing

工程改造耐冷聚合酶用于纳米孔长读段测序

Enhancing novel isoform discovery: leveraging nanopore long-read sequencing and machine learning approaches

利用纳米孔长读测序和机器学习方法改进新异构体的发现能力

De Novo Structural Variations of Escherichia coli Detected by Nanopore Long-Read Sequencing

基于纳米孔长读段测序的新出现的大肠杆菌结构变异检测研究

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

通过靶向纳米孔长读测序诊断普拉德-威利综合征和安格尔曼综合征

De-novo whole genome assembly of the orange jewelweed, Impatiens capensis Meerb. (Balsaminaceae) using nanopore long-read sequencing

基于纳米孔长读段测序的橙色瓢唇花（Impatiens capensis Meerb.(金丝桃科）从头全基因组草图组装

基于纳米孔长读段测序的脆性X综合征家系甲基化表观遗传分析翻译改进