In:
Genetics Research, Hindawi Limited, Vol. 90, No. 5 ( 2008-10), p. 445-450
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
0016-6723
,
1469-5073
DOI:
10.1017/S0016672308009816
Sprache:
Englisch
Verlag:
Hindawi Limited
Publikationsdatum:
2008
ZDB Id:
2412684-6
ZDB Id:
1472156-9
SSG:
12
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