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Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.

Abstract
To identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C-->G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.
AuthorsChao Xu, Meng Wei, Bin Su, Xue-Wei Hua, Guo-Wei Zhang, Xiao-Pei Xue, Cun-Ming Pan, Rong Liu, Yan Sheng, Zhi-Gang Lu, Li-Ren Jin, Huai-Dong Song
JournalGenetics research (Genet Res (Camb)) Vol. 90 Issue 5 Pg. 445-50 (Oct 2008) ISSN: 1469-5073 [Electronic] England
PMID19061534 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Troponin T
Topics
  • Adolescent
  • Adult
  • Aged
  • Cardiomyopathy, Hypertrophic, Familial (genetics)
  • Child
  • China
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 (genetics)
  • Female
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Myocardium (metabolism)
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Troponin T (genetics)
  • Young Adult

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