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.
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Authors | Chao 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 |
Journal | Genetics research
(Genet Res (Camb))
Vol. 90
Issue 5
Pg. 445-50
(Oct 2008)
ISSN: 1469-5073 [Electronic] England |
PMID | 19061534
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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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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