智力障碍/全面性发育迟缓遗传学诊断策略探讨  

Genetic diagnosis strategy in children with intellectual disability/global developmental delay

作　　者：周有峰[1] 黄艳[1] 刘光华 Zhou Youfeng;Huang Yan;Liu Guanghua(Department of Pediatrics, Fujian Provincial Maternity and Children' Hospital, the Affiliated Hospital of Fujian Medical University, Fuzhou 350001, China;Department of Clinical Medicine, Fujian Medical University, Department of Pediatrics, Fujian Provincial Maternity and Children' Hospital, Fuzhou 350001, China)

机构地区：[1]福建省妇幼保健院儿科福建医科大学附属医院,福建福州350001 [2]福建医科大学临床医学部,福建省妇幼保健院儿科,福建福州350001

出　　处：《临床荟萃》2021年第9期820-823,共4页Clinical Focus

摘　　要：目的探讨不明原因智力障碍/全面发育迟缓(ID/GDD)患儿遗传学检测策略。方法收集65例ID/GDD患儿外周血样本,行拷贝数变异(CNVs)检测,阴性样本行家系全外显子测序(trio-WES)。比较CNVs阳性组与单核苷酸变异(SNV)阳性组表型差异。将样本分为单独检测组(CNV-seq)和联合检测组(CNV-seq联合trio-WES),比较二者阳性率差异。结果联合检测组阳性率44.6%(29/65),单独检测组阳性率33.8%(22/65),阳性率有显著性差异。结论CNV-seq和trio-WES联合检测可提高阳性率。Objective To explore the diagnostic strategy of genetics in children with unexplained intellectual disability/global developmental delay(ID/GDD).Methods The peripheral blood samples of 65 children with ID/GDD were collected and sequenced with CNV-seq.The negative samples were detected with trio-WES.The characteristics of clinical phenotype between CNVs positive group and SNV positive group were compared.The samples were divided into single detection group(CNV-seq)and combined detection group(CNV-seq combined with trio-WES),and the statistical significance of positive rate between two groups was compared.Results There was significant difference in positive rate between combined test group and single test group,44.6%(29/65)vs 33.8%(22/65),respectively.Conclusion The combined detection of CNV-seq and trio-WES may increase the positive rate.

关 键 词：发育障碍 染色质 多态性 单核苷酸 外显子 

分 类 号：R749.93[医药卫生—神经病学与精神病学]