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, rs46

SUBMITTER: Xie LJ 

PROVIDER: S-EPMC4565312 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature