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  > 肾脏内科  > 期刊论文
学科主题: 肾脏病学
题名:
常染色体隐性遗传Alport综合征基因突变分析方法研究
其他题名: Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family
作者: 侯平; 吕继成; 陈育青; 丁嘉祥; 李光韬; 张宏
关键词: 肾炎,遗传性 ; 基因 ; 突变 ; 胶原 ; Nephritis,hereditary ; Genes ; Mutation ; Collagen
刊名: 中华医学杂志
发表日期: 2008
DOI: 10.3321/j.issn:0376-2491.2008.08.017
卷: 88, 期:8, 页:573-575
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 通过一例常染色体隐性遗传型Alport综合征患者家系的基因突变分析,探讨常染色体隐性遗传Alport综合征的基因诊断方法.方法 提取该患者外周血细胞的基因组DNA,应用基因组DNA PCR测序法对COL4A3和COL4A4基因各外显子进行突变筛查.对于基因组DNA序列异常者,从外周血细胞和EB病毒转染的细胞中提取总RNA,应用cDNA RT-PCR测序方法分析突变.同时在家系和正常人群中进行验证.结果 使用基因组DNA样本经PCR直接测序法检测到COL4A3基因上两个致病性新突变(IVS 39+1 G>A剪接突变和c.1729-1737 de19bp缺失突变);经RT-PCR测序方法验证其与基因组DNA样本中检测到的突变一致,并证实剪接突变产生异常的转录产物.结论 基因组DNA PCR测序法和cDNA RT-PCR-测序法均检测到Alport综合征患者COL4A3的致病突变,两种方法结果一致;cDNA RT-PCR测序法因为其相对快捷,并且可以了解突变转录情况而优于经典的基因组筛查突变方法. Objective To explore the gene diagnostic method for autosomal recessive Alport syndrome (AR-AS).Methotis Genomic DNA was extracted from the peripheral leukocytes of the proband of an AR-AS family.All the exons of COL4A3 and COL4A4 introns were amplified by PCR,and then the PCR products were sequenced by direct sequencing.Meanwhile,the mRNA of the coding region of type IV collagen α3 and α4 chain was extracted from the PBL and EB virus transfected cell and analyzed by using RT-PCR and sequencing to confoYm the genomic DNA analysis results.Results PCR-sequencing analysis identified two novel COL4A3 mutations.OBe was a 5' donor splice site mutation (C.3418+1 G to A) in exon 39,leading to the deletion of exon 39 in mRNA level by RT-PCR analysis.The other was a deletion mutation of 9 bp at exon 25 (C.1729-1737 del9).Conclusion Both genomic-DNA-PCR-sequencing and mRNA-RT-PCR-sequencing methods can be carried out to detect tlle pathogenic mutations.In particulr,mRNA-based approach Can identify the changes in transcript level,therefore it iS better than the genomic DNA-based method.
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/400002259/45841
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 北京大学第一医院肾内科北京大学肾脏疾病研究所,100034

Recommended Citation:
侯平,吕继成,陈育青,等. 常染色体隐性遗传Alport综合征基因突变分析方法研究[J]. 中华医学杂志,2008,88(8):573-575.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[侯平]'s Articles
[吕继成]'s Articles
[陈育青]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[侯平]‘s Articles
[吕继成]‘s Articles
[陈育青]‘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