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目的 确认中国儿童失神癫 (childhoodabsenceepilepsy ,CAE)是否与染色体 8q2 4连锁。方法 选取染色体 8q2 4上 5个微卫星DNA标记 (D8S554、D8S53 4、D8S110 0、D8S1783、D8S1753 ) ,对3 0个CAE核心家系的患儿及其父母的单体型进行分析 ,另有 10个正常家系作为对照。从外周血白细胞中常规抽提基因组DNA ,应用PCR方法扩增各个微卫星片断 ,PCR产物用基因测序确定各个等位基因的长度。统计学方法选用基于单体型的单体型相对风险 (HHRR)和传递不平衡检验 (TDT)分析。结果 经HHRR分析显示 ,D8S5544χ2 =5 93 9(P <0 0 5)、D8S110 0 3 χ2 =5 0 81(P <0 0 5)、D8S1783 6χ2 =4 3 0 8,(P <0 0 5) ,差异有显著性 ;TDT显示D8S5544χ2 =4 46(P <0 0 5)、D8S1783 6 χ2 =4(P <0 0 5) ,差异有显著性。为了排除HHRR和TDT分析可能存在的假关联 ,我们对所有患儿家系作了详细的分析 ,结果发现只有在位点D8S1783提示与CAE致病基因存在传递不平衡 ,而另二个位点均为假关联。结论 ①中国儿童失神癫可能与染色体 8q2 4连锁 ,与位点D8S1783存在传递不平衡 ;结合国外的结论 ,CAE致病基因可能存在于染色体 8q2 4上的ECA1区域内。②CAE基因在不同地区、不同种族的人群中可能存在遗传异质性。③对于核心家系 ,HHRR和
Objective To confirm whether Chinese childhood absence of epilepsy (CAE) is linked to chromosome 8q2 4. Methods The haplotypes of 30 children with CAE core family and their parents were analyzed by 5 microsatellite DNA markers on chromosome 8q2 4 (D8S554, D8S53 4, D8S110 0, D8S1783, D8S1753), and another 10 Normal family as a control. Genomic DNA was routinely extracted from peripheral blood leukocytes, and each microsatellite fragment was amplified by PCR. The PCR products were sequenced to determine the length of each allele. Statistical methods used haplotype-based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) analysis. Results The results of HHRR showed that D8S5544χ2 = 5 93 9 (P <0 05), D8S110 0 3 χ2 = 5 0 81 (P 0 05), D8S 1783 6χ 2 = 4380 (P 0 05) , The difference was significant; TDT showed D8S5544χ2 = 466 (P <0 05), D8S1783 6 χ2 = 4 (P <0 05), the difference was significant. In order to rule out possible false associations between HHRR and TDT, we analyzed all pedigrees in detail and found that there was an imbalance in the transmission of the CAE virulence gene only at site D8S1783 and the other two sites were Fake association. Conclusion ① The absence of epilepsy in Chinese children may be linked to chromosome 8q2 4 and the locus D8S1783 is imbalanced. Based on the conclusion of foreign studies, the CAE gene may exist in the ECA1 region on chromosome 8q2 4. ②CAE gene in different regions, different ethnic groups may have genetic heterogeneity. ③ For the nuclear family, HHRR and