1994
DOI: 10.1161/01.cir.89.1.33
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An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations.

Abstract: We conclude that RNase protection is a sensitive method for screening for mutations within the beta-cardiac MHC gene. Further, mutations in the noncoding regions of the beta-MHC gene and mutations in the alpha-cardiac MHC gene are not a common cause of FHC. Negative RNase protection assays of affected individuals suggest that their FHC is due to mutations at other loci.

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Cited by 8 publications
(3 citation statements)
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“…These are conservative estimates because the data are largely based on direct screening methods, which may miss a small proportion of mutations (although previous studies document the high sensitivity of these methods). 27 Despite this, we conclude that a substantial proportion, up to 50 percent, of cases of familial hypertrophic cardiomyopathy are due to mutations in as yet unidentified disease genes. We speculate that these disease genes will encode other proteins involved in the structure or function of cardiac sarcomeres.…”
Section: Discussionmentioning
confidence: 76%
“…These are conservative estimates because the data are largely based on direct screening methods, which may miss a small proportion of mutations (although previous studies document the high sensitivity of these methods). 27 Despite this, we conclude that a substantial proportion, up to 50 percent, of cases of familial hypertrophic cardiomyopathy are due to mutations in as yet unidentified disease genes. We speculate that these disease genes will encode other proteins involved in the structure or function of cardiac sarcomeres.…”
Section: Discussionmentioning
confidence: 76%
“…It should be noted that the C→T and G→A transitions that predominate in human disease-causing missense mutations will be detected efficiently by RNase A, because they result in C-A RNA-DNA mismatches in one or the other strand. Mutation detection may be nearly complete in diseases predominantly caused by such mutations (MacRae et al, 1994). Ribonucleases T1 and T2 do not appear to allow detection of those mismatches resistant to RNase A cleavage (Myers et al, 1985).…”
Section: Candidate Genes For Mutationsmentioning
confidence: 99%
“…Some support for this strategy is provided by linkage data on families in which no mutations were found on screening, showing no evidence of missed mutations. 35 This implies that, if they occur at all, mutations in the rod causing disease are very infrequent. A single deletion mutation in the terminal portion of the rod has been reported," but without evidence of segregation with disease.…”
Section: Cmh4-a Disease Locus On Chromosome 11mentioning
confidence: 99%