微阵列比较基因组杂交技术在染色体异常细胞遗传学分析中的应用  

Application of microarray comparative genomic hybridization in the cytogenetic analysis of chromosome abnormality

作　　者：欧明林[1] 张若菡[1] 龚蔚蔚[1] 荆环云[1] 陈洁晶[1] 

机构地区：[1]中国人民解放军第一八一医院中心实验室广西代谢性疾病研究重点实验室,广西桂林541002

出　　处：《中国优生与遗传杂志》2017年第11期44-46,49,F0002,共5页Chinese Journal of Birth Health & Heredity

基　　金：广西科技计划(合同编号:桂科攻1598012-25)

摘　　要：目的分析染色体G显带核型异常患者基因拷贝数变异(CNVs)情况,探讨微阵列比较基因组杂交(array CGH)技术在染色体异常细胞遗传学分析中的作用。方法收集受试者外周血标本,array CGH技术分析染色体易位、标记染色体以及性染色体异常患者CNVs情况及其临床意义。结果 array CGH分析发现染色体核型为45,XY,t(18;21)(18p11;21p11),15ps+的易位患者染色体18p11.3存在缺失,17q21.31存在扩增,18号染色体与21号染色体为非平衡易位,未检测到染色体15ps+相关CNVs;核型为47,XX,15ps-,+mar患者存在Y染色体相关CNVs,其标记染色体可能来源于Y染色体;核型为45,X/46,XY的性染色体异常患者染色体15q11.2存在缺失、15q13.3和22q11.23存在扩增,未检测到性染色体数目异常相关CNVs。结论 array CGH技术在临床细胞遗传学分析中具有重要的价值,该技术应用于CNVs分析有利于筛查病理性CNVs,明确染色体易位类型,辅助了解标记染色体的来源,但可能不适用于嵌合体以及染色体随体异常的检测。Objective：To investigate copy number variations（CNVs）in the patients with chromosome abnormality,and to assess the value of using microarray comparative genomic hybridization（array CGH）in cytogenetic analysis of chromosomal abnormalities. Methods：The CNVs and their clinical significance in the patients with chromosome translocation,marker chromosome and sex chromosome abnormality were analyzed by array CGH. Results：In the patient with Chromosome karyotype of 45,XY,t（18;21）（18 p11;21 p11）,15 ps＋,array CGH showed 18 p11.3 deletion and 17 q21.31 amplification,unbalance translocation between chromosome 18 and 21;no CNVs associated with chromosome 15 ps＋ was detected. In the patient with Chromosome karyotype of 47,XX,＋mar,array CGH showed CNVs in the chromosome Y and the marker chromosome may come from chromosome Y. In the patient with Chromosome karyotype of 45,X/46,XY,array CGH showed 15 q11.2 deletion,15 q13.3 and 22 q11.23 amplification,but no obvious CNVs was found in the sex chromosome. Conclusion：The application of array CGH is valuable in the clinical cytogenetic analysis,which may be helpful in type clarifying of chromosomal translocation,understanding the origin of marker chromosomes,pathological CNVs screening,but it may be unable using in chimera and satellite abnormality detection.

关 键 词：基因组杂交 拷贝数变化 染色体异常 

分 类 号：R596[医药卫生—内科学]