南京医科大学学报（自然科学版）2013，Vol.33Issue(2)：201-205,5.DOI:10.7655/NYDXBNS20130212
应用MLPA技术和aCGH技术检测额外小标记染色体
Application of MLPA and aCGH technology in diagnosing small supernumerary marker chromosome
摘要
Abstract
Objective;To identify small supernumerary marker chromosome by application of multiplex ligation-dependent probe amplification (MLPA)and array comparative genomic hybridization (aCGH). Methods;One case with abnormal mentality was indentified with de novo small supernumerary marker chromosome. G-banding analysis indicated that the patient has a karyotype of 47,XY,+Mar. MLPA was applied to investigate the origin of small supernumerary marker chromosome. Moreover,aCGH was used to define the precise location and size of de novo chromosome. Results;The result of MLPA showed the patient had duplication in 18pl 1.21 and 18pll.32;aCGH revealed that there was 15 Mb duplication from 18 pll.21-pll.32 in the patient. MLPA and aCGH revealed the presence of small supernumerary marker chromosome, which was derivative from the short arm of chromosome 18. Conclusion;The technologies of MLPA and aCGH can be used for identifying the origin of small supernumerary marker chromosome and defining the loci of the chromosome and can be applied to genetics analysis.关键词
多重连接依赖探针扩增技术/微阵列比较基因组杂交技术/额外小标记染色体/18p三体Key words
MLPA technology/aCGH technology/small supernumerary marker chromosome/trisomy 18p分类
生物科学引用本文复制引用
张菁菁,李璃,马定远,胡平,秦岭,许争峰..应用MLPA技术和aCGH技术检测额外小标记染色体[J].南京医科大学学报（自然科学版）,2013,33(2):201-205,5.基金项目
南京医科大学科技发展基金重点项目(2011NJ-MU215) （2011NJ-MU215）
南京市卫生青年人才培养工程(第三层次) （第三层次）
