BoBs技术在常见染色体微缺失／微重复综合征检测中的应用  

Application of BoBs technique for detecting common chromosome microdeletion and microduplication syndromes

作　　者：杨必成[1] 唐新华[1] 苏洁[1] 陈红[1] 章锦曼[1] 银益飞[1] 冯燕[1] 章印红[1] 朱姝[1] 张杰[1] 朱宝生[1] 

机构地区：[1]昆明理工大学附属医院,云南省出生缺陷与遗传病研究重点实验室,云南省第一人民医院遗传诊断中心,650032

出　　处：《中华医学遗传学杂志》2016年第4期452-457,共6页Chinese Journal of Medical Genetics

基　　金：云南省应用基础研究计划重点项目（2011FA030）;云南省卫生领军人才培养项目（L-201201）

摘　　要：目的建立不明原因发育迟缓合并智力低下儿童常见染色体微缺失／微重复综合征的临床检测技术策略。方法应用细菌人工染色体（bacterialartificialchromosome，BAC）标记微球阵列（BACs—on-Beads，BoBs）技术和外周血染色体G带技术，检测不明原因的智力发育迟缓、心脏异常、特殊面容及学习障碍等临床表现患儿的染色体变异，并用微阵列比较基因组杂交技术（array-basedcomparativegenomichybridization，Array-CGH）对部分阳性病例进行验证。结果60例患儿的外周血染色体核型分析正常58例，其中2例存在染色体部分单体；采用BoBs技术，在60例患儿中检出10例染色体微缺失综合征和1例染色体微重复综合征，其中包括外周血染色体核型分析检出的2例染色体部分单体；此外，BoBs技术检出的1例Smith—Magenis综合征和1例Prader—Willi／Angelman综合征的染色体异常结果得到了Array-CGH实验的验证。结论BoBs技术是一种高特异性、高通量的分子细胞遗传学技术，能够常规用于检测常见的9种染色体微缺失／微重复综合征，可检出G带核型分析技术不能发现的染色体微缺失／微重复，弥补了传统细胞遗传学检测技术分辨率较低的局限性。Objective To establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities. Methods Potential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads （BoBs） technique and karyotyping. Positive results were verified with array-based comparative genomic hybridization （Array- CGH）. Results Fifty eight of the 60 patients had a normal chromosome karyotype. Ten patients with microdeletion and microduplication syndromes were detected by BoBs, which included two positive cases identified through chromosome karyotyping. Two patients were respectively diagnosed as Smith-Magenis syndrome and Prader-Willi/Angelman syndrome by BoBs and the results were confirmed by Array-CGH. Conclusion BoBs is capable of detecting chromosome microdeletion and microduplication with high specificity and throughput, which can compensate the shortcomings of conventional cytogenetic technology and will be widely applied for clinical diagnosis.

关 键 词：BACs—on—Beads技术 染色体异常 微缺失综合征 微重复综合征 

分 类 号：R725.9[医药卫生—儿科]