van den Berg M H, Meijer H, Geraedts J P
Department of Clinical Genetics and Molecular Cell Biology, University of Limburg, Maastricht, The Netherlands.
Hum Genet. 1995 Jun;95(6):723-4. doi: 10.1007/BF00209499.
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.
已在位于14号染色体q臂上的心脏α肌球蛋白重链基因(MYH6)中证实了一种多态性三核苷酸重复组合(GAA)m(GAG)n,该基因有时与家族性肥厚型心肌病有关。根据长度,在55名无亲缘关系个体的样本中检测到至少17个等位基因,其重复次数从31次到50次不等。