Premium
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy
Author(s) -
Gerull Brenda,
Osterziel KarlJosef,
Witt Christian,
Dietz Rainer,
Thierfelder Ludwig
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:2<179::aid-humu12>3.0.co;2-w
Subject(s) - biology , genetics , hypertrophic cardiomyopathy , mutation , proband , troponin t , troponin , exon , genomic dna , gene , gene mutation , microbiology and biotechnology , medicine , myocardial infarction , biochemistry
Mutations in the human cardiac troponin T gene (TNNT2) are associated with familial hypertrophic cardiomyopathy (FHC) linked to chromosome 1q3 (CMH2). Mutation analyses of TNNT2 have been restricted to RNA‐based screening methods because only the TNNT2 cDNA sequence was known. We characterized the genomic structure of 15 TNNT2 exons spliced into the adult isoform. A protocol for rapid mutation detection based on direct sequencing of large PCR‐amplified genomic DNA fragments revealed a known TNNT2 mutation (Phe110Ile) in one of 30 FHC probands. Three polymorphic short tandem repeat elements (D1S477, D1S2622, and D1S1723), useful for FHC pedigree analyses at CMH2, were shown to be physically tightly linked to TNNT2. Hum Mutat 11:179–182, 1998. © 1998 Wiley‐Liss, Inc.