1例Angleman综合征合并动脉导管未闭患儿的细胞分子遗传学研究  

Cytogenetic and molecular genetic diagnosis for a girl with Angelman syndrome and patent ductus arteriosus

作　　者：范晓博[1,2] 崔英霞[2] 周玉春[2] 周鑫[2] 康宁[2] 夏欣一[2] 胡毓安[2] 黄宇烽[2] 

机构地区：[1]南京师范大学生命科学学院,南京210046 [2]南京军区南京总医院解放军临床检验医学研究所,南京210002

出　　处：《临床检验杂志》2011年第1期66-68,共3页Chinese Journal of Clinical Laboratory Science

基　　金：江苏省科技厅技术平台资金资助(BM2008151)

摘　　要：目的对1例Angleman综合征合并动脉导管未闭患儿进行细胞分子遗传学研究。方法用Affymetrix Cytogenetics 2.7M基因芯片、荧光原位杂交(florescence in situ hybridization,FISH)、G-显带、Ag-NOR染色等技术,对1例智力低下合并不语、兴奋、共济运动失调的女性患儿进行基因组拷贝数和染色体核型分析等检测。结果患儿核型为47,XX,+mar;银染结果显示多余的染色体两端具有随体。基因芯片分析结果提示该患儿基因组中15号染色体q11.2-q13.1区域存在5.058 Mb缺失,在2号染色体上存在0.79Mb的重复;FISH法进一步证实了1条15号染色体q11-q13区域存在缺失,STR结果显示父源15q11-q13区域存在。结论确认患儿染色体15q11-q13区域缺失,临床诊断为Angleman综合征。Affymetrix芯片技术可应用于拷贝数变异的检测。Objective To diagnose Angelman syndrome and patent ductus arteriosus in a 3-years old girl who presented mental retardation with absent speech and ataxic gait.Methods Cytogenetic and molecular genetic techniques were combined.Affymetrix cytogenetics whole genome 2.7M arrays,high-resolution chromosome analysis,florescence in situ hybridization（FISH） and microsatellite analysis were applied for detecting the copy number of deletion in genome from this girl.Results A 5.058 Mb of large deletion in the chromosome band 15q11.2-q13.1 was found.The size of the duplications of chromosome 2q24 was 0.79Mb.The deletions at 15q11-q13 was confirmed by FISH with LSI D15S10/PML/CEP 15 dual color DNA probe.Microsatellite analysis showed D15S128 and D15S122 in the girl and her father were identical,and a deletion in chromosome 15 may originate from her mother.Conclusions The deletion of 15q11.2-q13.1 in critical gene may result in Angelman syndrome in the girl.Array-based comparative genomic hybridization（aCGH） analysis is a useful method for detecting the variation of copy number.

关 键 词：Angleman综合征 小超数标记染色体 基因芯片 微卫星检测 荧光原位杂交 

分 类 号：Q754[生物学—分子生物学]