Millar D S, Krawczak M, Cooper D N
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Hum Genet. 1998 Aug;103(2):228-33. doi: 10.1007/s004390050810.
The methylation status of 12 CpG sites in three exons of the human factor VIII (F8C) gene was examined by bisulphite genomic sequencing of human sperm DNA from 14 European Caucasians and Asians. Different CpG sites were found to vary in their methylation status both within and between individuals. Strand differences in methylation status were also detected at certain sites, a finding that could reflect hemi-methylation. No evidence for systematic deviations in methylation status were found between the two ethnic groups. Only a limited correlation was observed between the level of methylation of specific CpG sites in sperm DNA and their mutability, a finding that is probably attributable to the pattern of methylation observed in mature spermatocytes not being representative of that of the germline.
通过对14名欧洲白种人和亚洲人的人类精子DNA进行亚硫酸氢盐基因组测序，检测了人类凝血因子VIII（F8C）基因三个外显子中12个CpG位点的甲基化状态。发现不同的CpG位点在个体内部和个体之间的甲基化状态存在差异。在某些位点还检测到甲基化状态的链差异，这一发现可能反映了半甲基化。未发现两个种族群体之间甲基化状态存在系统性偏差的证据。仅观察到精子DNA中特定CpG位点的甲基化水平与其可变性之间存在有限的相关性，这一发现可能归因于成熟精母细胞中观察到的甲基化模式不代表种系的甲基化模式。
