title: LMNA gene single nucleotide polymorphisms in dilated cardiomyopathy of Han children.
abstract: 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 by χ(2) test.
  
  
  RESULTS
  No disease-causing mutation in LMNA gene was found in all DCM patients. Three nonsense single nucleotide polymorphisms (SNPs) were identified. ① The 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). ② The 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). ③ The 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).
  
  
  CONCLUSIONS
  The SNP of LMNA gene may be associated with the susceptivity of DCM in Chinese Han children.
authors.affiliation: Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200040, China.
authors.forename: Li-Jian
authors.initials: LJ
authors.lastname: Xie
authors.affiliation: Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200040, China.
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Xiao
authors.affiliation: Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200040, China.
authors.forename: Min
authors.initials: M
authors.lastname: Huang
authors.affiliation: Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200040, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Shen
keywords: Dilated cardiomypathy; LMNA gene; single nucleotide polymorphisms