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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 investigate whether the copy number variation (CNV) in 15q11.2 and 15q13.3 regions is associated with the phenotype of children with absence of epilepsy (CAE) in Chinese Han children. Methods Affymetrix SNP 5.0 chip technique was used to detect idiopathic total epilepsy (IGEs) in 198 children with CAE and 198 healthy Han adults in North China. CNV was detected based on high density oligonucleotide The comparative genomic hybridization chip technology to further verify. Accurate technique was used to detect CNV in 15q11.2 and 15q13.3 in another 200 CAE children. Results Microdeletions of 15q11.2 were found in 198 cases of CAE in children with Affymetrix SNP 5.0 chip technology. One case had microdeletions of 15q13.3, but not found in 198 healthy controls. Another 200 patients with CAE found in 1 case there is 15q11.2 microdeletions. Among the 5 cases of microdeletions detected, one case was new CNV, and the other four cases were all inherited from their mother. The mothers of these children did not find definite manifestation of epilepsy. Conclusion Microdeletions of 15q11.2 and 15q13.3 are important disease-associated CNV in children with CAE, and 15q11.2 microdeletions have a higher incidence of microdeletions than 15q13.3 in Chinese Han population.