染色体15q11.2和15q13.3区域的微缺失与中国儿童失神癫的相关性

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(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(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患儿进行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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。

Association of Microdeletions in 15q11.2 and 15q13.3 with Childhood Absence Epilepsy in Chinese Patients

Objective To investigated whether the copy number variations(CNV) in 15q11.2 and 15q13.3 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 SNP 5.0 microarrays,and the CNV identified by high-density oligonucleotide-based CGH microarrays were verified.The Accucopy technology was conducted to detect the CNV in 15q11.2 and 15q13.3 in another 200 patients with CAE. Results 15q11.2 microdeletion in 3 cases out of 198(1.5%) CAE patients and 15q13.3 microdeletion in 1 case out of 198(0.5%) CAE patients were found,but none were detected in 198 controls.15q11.2 microdeletion was also found in 1 patient among another 200 CAE patients.Among these 5 cases,only 1 case had de novo CNV and the other 4 cases inherited the CNV from their mothers with normal phenotype. Conclusions 15q11.2 microdeletion and 15q13.3 microdeletion are also important pathogenic CNV for CAE in Chinese patients,and 15q11.2 microdeletion has higher frequency.