Shaw D J, Chaudhary S, Rundle S A, Crow S, Brook J D, Harper P S, Harley H G
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
J Med Genet. 1993 Mar;30(3):189-92. doi: 10.1136/jmg.30.3.189.
We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles. Probes encompassing the 5', central, and 3' regions of the myotonic dystrophy protein kinase gene were used on blots of blood DNA from congenital and adult onset patients, digested with combinations of methylation sensitive and insensitive restriction enzymes. We observed similar patterns of methylation in each of the different classes of patient, and found no methylation differences between paternally and maternally derived alleles. Within the limitations of the experiment, our results provide no evidence for a role for genomic imprinting in congenital myotonic dystrophy and suggest that the explanation for this form of the disease will be found elsewhere.
我们检验了这样一种假说，即严重先天性强直性肌营养不良是由母本和父本等位基因在DNA甲基化差异水平上的基因组印记所导致。使用涵盖强直性肌营养不良蛋白激酶基因5'端、中央和3'端区域的探针，对先天性和成年发病患者的血液DNA印迹进行检测，这些DNA用甲基化敏感和不敏感的限制性内切酶组合进行消化。我们在每类不同患者中观察到相似的甲基化模式，并且未发现父本和母本来源的等位基因之间存在甲基化差异。在该实验的局限性范围内，我们的结果没有为基因组印记在先天性强直性肌营养不良中的作用提供证据，并表明这种疾病形式的解释将在其他地方找到。
