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

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

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。

Objective To investigated whether the copy number variations （CNV） in 15q11.2 and 15q13.3 are associated with child- hood 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 nligonuelentide -based CGH microarrays were verified. The Aecucopy technology was conducted to detect the CNV in 15q11.2 and 15q13.3 in another 200 patients with CAE. Results 15q11. 2 mierodeletion in 3 cases out of 198 （ 1.5% ） CAE patients and 15q13.3 mierodeletion 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 pa- tient 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.