北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 中心实验室  > 期刊论文
学科主题: 临床医学
题名:
分子遗传学技术诊断MECP2重复综合征四例分析
其他题名: Diagnosis of MECP2 duplication syndrome with molecular genetic techniques
作者: 易致; 王松涛; 李琳; 吴海荣; 马祎楠; 戚豫; 潘虹
关键词: X染色体失活 ; 甲基-CpG-结合蛋白质2 ; 基因 ; X Chromosome inactivation ; Methyl-CpG-binding protein 2 ; Genes
刊名: 中华儿科杂志
发表日期: 2014
DOI: 10.3760/cma.j.issn.0578-1310.2014.12.013
卷: 52, 期:12, 页:937-941
收录类别: 中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型: Journal Article
摘要: 目的 用多重连接探针扩增技术(MLPA)和微阵列比较基因组杂交技术(array-CGH)研究4例以运动、智力发育落后为主要表现的患儿甲基化CpG结合蛋白2基因(MECP2)基因突变特点.方法 取北京大学第一医院2012年6月至2014年4月收治的4例患儿及其中例2、例4母亲的外周血,提取基因组DNA;先对患儿用MLPA方法进行微缺失和微重复检测,然后用array-CGH进行分析进一步确定重复片段的大小;同时对2例患儿的母亲进行array-CGH和X染色体失活分析(XCI).结果 4例患儿均表现为严重肌张力低下,运动、智力发育落后和语言发育障碍,除例2之外,另3例患儿婴儿期均反复发生肺炎.MLPA显示4例患儿均存在染色体Xq28重复;array-CGH检测显示4例患儿Xq28区域存在重复,4例患儿重复片段大小分别为14.931 Mb、0.393 Mb、0.482 Mb、0.299 Mb,经与UCSC(http://genome.ucsc.edu/)数据库比对,4例患儿的重复片段均包含MECP2和宿主细胞因子C1基因(HCFC1).例2和例4患儿的母亲存在Xq28重复,其中例4患儿母亲的重复片段起止位点和大小与患儿完全相同,例2母亲重复片段为0.343 Mb,小于患儿,近着丝粒断点与患儿不同,远端断点与患儿相同.X染色体失活分析发现母亲二条X染色体活性比例为0∶100,存在重复的一条X染色体完全失活,并且将发生重复的这条X染色体遗传给了患儿.结论 对于运动智力发育落后、肌张力低下、语言发育障碍和反复发生感染的患儿进行MLPA和array-CGH联合检测是诊断MECP2重复综合征的有效且特异的方法. Objective To investigate whether the four boys with delayed motor development and intellectual disability suffer from MECP2 duplication syndrome.Method Blood specimens and clinical data of four patients and mothers of patient 2 and patient 4 were collected.Genomic DNA was extracted from peripheral blood using DNA extraction kit.At first multiplex ligation-dependent probe amplification (MLPA) was employed in 4 patients,two distinct kits SALSA P036 and P070 for sub-telomere screening,and SALSA P245 for the 22 common microdeletion and microduplication syndromes.Then array-CGH analysis was carried out.Two mothers of patients were tested by array-comparative genomic hybridization (CGH) and X chromosome inactivation analysis.Result All the 4 patients presented with severe hypotonia,delayed motor development,intellectual disability and absent or limited language.Three patients manifested recurrent pneumonia in infancy except patient 2.Four patients had duplication on chromosome Xq28 with MLPA kit SALSA P245.Array-CGH identified the size of each duplication on Xq28.The precise size of each duplication was different in the four patients:patient 1,14.931 Mb,patient 2,0.393 Mb,patient 3,0.482 Mb and patient 4,0.299 Mb.To compare Xq28 duplications with UCSC database (http://genome.ucsc.edu/) revealed that each duplication harbors the MECP2 and HCFC1 gene.Mothers of patient 2 and patient 4 also carried microduplication on Xq28.X chromosome inactivation analysis demonstrated completely skewed inactivation (0∶ 100) and it is the inactive allele that passed on to the patients.Conclusion For patients that present with delayed motor development,intellectual disability,hypotonia,absent or limited language and recurrent infection,combination of MLPA and array-CGH is effective and specific diagnostic methods of MECP2 duplication syndrome.
语种: 中文
原文出处: 查看原文
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/44064
Appears in Collections:北京大学第一临床医学院_中心实验室_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 100034,北京大学第一医院中心实验室

Recommended Citation:
易致,王松涛,李琳,等. 分子遗传学技术诊断MECP2重复综合征四例分析[J]. 中华儿科杂志,2014,52(12):937-941.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[易致]'s Articles
[王松涛]'s Articles
[李琳]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[易致]‘s Articles
[王松涛]‘s Articles
[李琳]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit
所有评论 (0)
暂无评论
 
评注功能仅针对注册用户开放,请您登录
您对该条目有什么异议,请填写以下表单,管理员会尽快联系您。
内 容:
Email:  *
单位:
验证码:   刷新
您在IR的使用过程中有什么好的想法或者建议可以反馈给我们。
标 题:
 *
内 容:
Email:  *
验证码:   刷新

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace