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LMNA Gene Single nucleotide polymorphisms in Dilated Cardiomyopathy of Han Race Children
XIE Lijian 1 *,HUANG Min 2,YUAN Yingdi 3
1.Shanghai Children\'s Hospital, Shanghai Jiaotong University, ShangHai 200040
2.Shanghai Chidren's Hospital Shanghai Jiaotong University
3.Shanghai Children's Hospital Shanghai Jiaotong University
*Correspondence author
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Subject:
Funding: 上海市卫生局青年基金资助（No.No-2008Y004）, 教育部博士点新教师基金（No.No-20090073120105）
Opened online:17 January 2013
Accepted by: none
Citation: XIE Lijian,HUANG Min,YUAN Yingdi.LMNA Gene Single nucleotide polymorphisms in Dilated Cardiomyopathy of Han Race Children[OL]. [17 January 2013] http://en.paper.edu.cn/en_releasepaper/content/4513604
 
 
Objective To investigate whether LMNA gene mutation is associated with dilated cardiomyopathy (DCM) in Chinese Han Race children. Methods DNA was isolated from 78 patients with DCM and 100 healthy Chinese children who served as controls. 12 exons in the functional regions and the adjacent part of introns of the LMNA gene were amplified with polymerase chain reactions (PCR) and the PCR products were sequenced with DNA sequencer. We compared the DNA sequence with Blast software online Pubmed website. The differences of allele and genotype between the groups were detected byχ2 test. Results No disease-causing mutation in LMNA gene was found in all DCM patients. Three nonsense single nucleotide polymorphisms (SNPs) were identified. ①The first is c.1908C>T (H566H, rs4641) which was located at exon 10 of LMNA gene. It was found in 29 DCM cases and 15 control subjects. Compared to healthy controls, the frequency of TT and TC genotypes, and the C allele were significantly increased in DCM patients (P<0.05). ②The second was c.861C>T (A287A, rs5380) which was located at exon 5 of LMNA gene. It was found in 9 DCM cases and 2 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). ③The third was c.1338C>T（D446D, rs5058）which located at exon 7 of LMNA gene. It was found in 8 DCM cases and 3 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). Conclusion The SNP of LMNA gene may be associated with the susceptivity of DCM in Chinese Han children.
Keywords:Dilated cardiomypathy; LMNA; Single nucleotide polymorphisms; gene
 
 
 

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