摘要
目的:探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术在神经发育障碍性疾病(neurodevelopmental disailities,NDDs)患儿遗传学病因诊断中的临床应用价值。方法:NDDs患儿采集外周血之后,提取基因组DNA并进行CMA检测,检测结果用ChASv3.0软件和相关信息学数据库进行分析。结果:检测到染色体拷贝数变异患儿22例(22.00%,22/100),其中携带病理性变异及可能致病性变异患儿14例(14/100,14.00%),涉及17个致病性及可能致病性CNVs,包括14个微缺失位点(1q21.1q21.2、6p22.3、7q11.23、7q11.23、7q31.1、8p23.3p23.1、9q34.3、10q26.13q26.3、15q11.2q13.2、15q11.2q13.1、15q11.2q13.1、Xp22.32p22.31、Xp22.33p11.23、Xq21.1q28);3个微重复位点(2q36.3q37.3、9q34.12q34.3、8q24.23q24.3);携带临床意义未知变异的患儿8例(8/100,8.00%)。78例患儿未见明显染色体异常,样本的检测成功率为100%。结论:染色体拷贝数变异是导致NDDs发生的重要遗传学因素之一。CMA检测能及时发现神经发育障碍性疾病患儿染色体异常,同时能够检测出传统染色体核型分析无法发现的大量微缺失或微重复,在检测的敏感性、特异性、可靠性等方面得到很大提高。
Objective:To explore the clinical application value of chromosomal microarray analysis(CMA)in the genetic diagnosis of neurodevelopmental disabilities(NDDs).Methods:The peripheral blood samples were collected for genomic DNA extracting and CMA detecting.The results were analyzed using ChASv3.0 software and related informatics databases.Results:A total of 22 cases(22.00%,22/100)with chromosome copy number variations(CNVs)were detected,14 cass(14/100,14.00%)with pathological and possibly pathogenic variation were found,and 14 microdeletions(including 1q21.1q21.2,6p22.3,7q11.23,7q11.23,7q31.1,8p23.3p23.1,9q34.3,10q26.13q26.3,15q11.2q13.2,15q11.2q13.1,15q11.2q13.1,Xp22.32p22.31,Xp22.33p11.23 and Xq21.1q28)and 3 microduplications(including 2q36.3q37.3,9q34.12q34.3 and 8q24.23q24.3)were involved in 17 cases with pathogenic or likely pathogenic CNVs.The unexplained variations with clinical significance in 8 cases(8/100,8.00%)were found.No obvious chromosomal abnormalities were found in 78 children,and the detection success rate of samples was 100%.Conclusions:The CNVs are one of the important genetic factors leading to NDDs.CMA can detect the chromosomal abnormalities,and find numerous microdeletions or microduplications which cannot be found traditional karyotype analysis,the sensitivity,specificity and reliability of detection are greatly improved.
作者
邵晨
闫冬梅
王艳娟
赵亚丽
杨舒婷
王志伟
刘双
仝娇
王雷雷
SHAO Chen;YAN Dong-mei;WANG Yan-juan;ZHAO Ya-li;YANG Shu-ting;WANG Zhi-wei;LIU Shuang;TONG Jiao;WANG Lei-lei(College of Nursing,Yangzhou University,Yangzhou Jiangsu 225000;Lianyungang Maternal and Child Health Hospital Affiliated to Yangzhou University Medical College,Lianyungang Jiangsu 222000,China)
出处
《蚌埠医学院学报》
CAS
2021年第4期468-474,共7页
Journal of Bengbu Medical College
基金
江苏省科技计划社会发展面上项目(BE2018677)。
