中文摘要：

目的 研究核纤层蛋白（LMNA）基因在汉族扩张型心肌病（dilated cardiomyopathy,DCM）患儿中的突变情况.方法 对70例DCM患儿和70名健康对照儿童进行LMNA基因突变筛查,用聚合酶链反应分别扩增LMNA基因功能区12个外显子及附近部分内含子,双脱氧末端终止法测序DNA序列,用Pubmed的Blast在线软件对测序输出序列与模板序列进行比对.组间等位基因和基因型的分布差异采用χ2检验.结果 在23例DCM患儿和5名对照组儿童中,发现LMNA基因第10号外显子的第90位碱基存在C→T改变的多态性位点,即LMNA基因的C1698T（rs4641）,C1698T多态性位点的TC、TT基因型在DCM患儿中的频率明显高于对照组,两者之间差异有统计学意义（P ＜ 0.05）;在2例DCM患儿中,发现LMNA基因第5号外显子的第51位碱基存在C→T改变的多态性位点,即LMNA基因的C861T,在对照组儿童中未发现该突变.结论 LMNA基因C1698T和C861T的多态性可能与汉族DCM患儿的发病风险相关

英文摘要：

Objective To investigate the correlation of LMNA gene mutation with the dilated cardiomyopathy （DCM） in Chinese children of Han nationality. Methods DNA was isolated from 70 patients with DCM and 70 healthy children as controls. Twelve exons of the LMNA gene in the functional regions and the adjacent part of introns were amplified with polymerase chain reactions （PCR） . The PCR products were sequenced by the DNA sequencer, and then the DNA sequences were further compared with the Blast software online. The differences in the distribution of the alleles and genotypes were analyzed by X^2 test between the groups. Results The mutation of LMNA gene was not found in all DCM patients. There were two nonsense single nucleotide polymorphisms （SNP） to be identified in 23 patients with DCM and 5 control children. One of them was C1698T （rs4641） which was located at exon 10 of LMNA gene. Compared to healthy controls, the frequency of TT and TC genotypes were significantly higher in DCM patients （P 〈 0.05）. Another SNP which was found in only 2 DCM patients was C861T in exon 5 of LMNA gene. Conclusions The Dolvmorohisms of C1698T and C861T in LMNA gene mac be associated with the etiology of DCM in children ofHan nationality.