采用多重连接依赖式探针扩增技术对先天性心脏病患儿进行基因拷贝数变异分析  

Gene copy number variation analysis of children with congenital heart disease by using multiplex ligation dependent probe method

作　　者：罗世强 严提珍 唐宁 黄际卫 廖凤文 李伍高 李哲涛 梁彪 

机构地区：[1]柳州市出生缺陷预防与控制重点实验室,广西柳州545001 [2]柳州市妇幼保健院检验科,广西柳州545001 [3]柳州市妇幼保健院小儿外科,广西柳州545001

出　　处：《分子诊断与治疗杂志》2015年第1期33-37,共5页Journal of Molecular Diagnostics and Therapy

基　　金：柳州市科学研究与技术开发计划项目(20140020404)

摘　　要：目的探讨多重连接依赖式探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术在临床上检测先天性心脏病(congenital heart disease,CHD)患者基因拷贝数变异(copy number variation,CNV)的可行性,了解中国未挑选的先天性心脏病患儿中基因拷贝数变异的发生情况。方法收集未挑选的125例先天性心脏病患儿,以100例年龄、性别匹配的健康儿童为正常对照组,采用MLPA技术(MLLPA-kit P311试剂盒)对病例组和对照组的基因组DNA进行分析。结果在125例先天性心脏病患儿中,发现5个22q11.2微缺失,阳性检出率为4%(5/125)。在100例正常对照中均未检出拷贝数变异。结论 CNV是CHD的重要致病机制,而22q11微缺失是CHD患者中常见的CNV的类型之一。ML-PA技术具有高通量、快捷及成本较低等特点,可应用于先天性心脏病基因拷贝数异常的检测。Objective To investigate the efficiency of multiplex ligation dependent probe amplification （MLPA） method in detecting congenital heart disease （CHD） and evaluate the role of somatic copy number variation （CNV） in the genesis of CHD in China. Methods A total of 125 cases with CHD were collected. 100 age and sex-matched normal subjects were served as control group. The genomic DNA from all the cases and healthy controls were detected by MLPA-kit P311. Results Of the 125 CHD patients, 5 cases were detected with 22q11.2 microdeletion. The total detection rate is 4% （5/125）. No CNVs was detected in the control group. Conclusion Somatic CNV plays an important role in the genesis of CHD, of which 22q11.2 microdeletion is one of the most significant and frequent CNV. MLPA is a high throughput, rapid and low-cost technique to detect CHD caused by CNV, including trisomies, microdeletion and microduplication.

关 键 词：先天性心脏病(CHD) 多重连接依赖式探针扩增(MLPA) 基因拷贝数变异(CNV) 22Q11微缺失 

分 类 号：R725.4[医药卫生—儿科]