A trinucleotide repeat combination polymorphism in the cardiac alpha myosin heavy chain (MYH6) gene.
A polymorphic trinucleotide repeat combination (GAA)m(GAG)n has been demonstrated in the cardiac alpha myosin heavy chain gene (MYH6), which is located on chromosome 14q, and which is sometimes involved in familial hypertrophic cardiomyopathy. Based on length, at least seventeen alleles varying from 31 to 50 repeats have been detected in a sample of 55 unrelated individuals.
van den Berg
M H
MH
Department of Clinical Genetics and Molecular Cell Biology, University of Limburg, Maastricht, The Netherlands.
Meijer
H
H
Geraedts
J P
JP
D000483:Alleles; D001483:Base Sequence; D024722:Cardiac Myosins; D005787:Gene Frequency; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009206:Myocardium / Q000737:chemistry*; D018995:Myosin Heavy Chains; D009218:Myosins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
C094239:MYH6 protein, human; D009124:Muscle Proteins; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins