染色体15q11.2和15q13.3区域的微缺失与中国儿童失神癫痫的相关性

摘要

目的 探讨15q11.2和15q13.3区域的拷贝数变异(CNV)是否与中国汉族儿童失神癫痫(CAE)患儿的表型相关.方法 采用Affymetrix SNP 5.0芯片技术对198例CAE患儿和198名北方汉族健康成人进行特发性全面性癫痫(IGEs)相关的CNV检测,对发现的阳性CNV采用高密度寡核苷酸为基础的比较基因组杂交芯片技术进一步验证.应用Accucopy技术对另外200例CAE息儿进行15q11.2和15q13.3区域的CNV检测.结果 通过Affymetrix SNP 5.0芯片技术在198例CAE患儿中发现3例存在15q11.2的微缺失,1例存在15q13.3的微缺失,而在198名健康对照中没有发现.另外200例CAE患儿中发现1例存在15q11.2的微缺失.发现的5例微缺失中除1例为新发CNV外,余4例均遗传自母亲,这些患儿的母亲没有发现明确的癫痫表现.结论 15q11.2和15q13.3的微缺失是CAE患儿重要的疾病相关CNV,并且15q11.2微缺失在中国汉族人群中具有较15q13.3微缺失更高的发生率.%Objective To investigated whether the copy number variations (CNV) in 15qll.2 and 15ql3.3 are associated with childhood absence epilepsy (CAE) in Chinese children. Methods Idiopathic generalized epilepsies(IGE) - related CNV in 198 patients with CAE and 198 healthy controls from northern China were assessed by Affymetrix SNP5. 0 microarrays,and the CNV identified by high -density oligonucleotide - based CGH microarrays were verified. The Accucopy technology was conducted to detect the CNV in 15qll.2 and 15ql3.3 in another 200 patients with CAE. Results lSqll.2 microdeletion in 3 cases out of 198 ( 1.5% ) CAE patients and 15ql3.3 microdeletion in 1 case out of 198 (0.5% ) CAE patients were found,but none were detected in 198 controls. 15qll.2 microdeletion was also found in 1 patient among another 200 CAE patients. Among these S cases,only 1 case had de novo CNV and the other4 cases inherited the CNV from their mothers with normal phenotype. Conclusions 15ql 1. 2 microdeletion and 15ql3.3 microdeletion are also important pathogenic CNV for CAE in Chinese patients,and lSqll.2 microdeletion has higher frequency.