VARIATION OF SITE-SPECIFIC METHYLATION PATTERNS IN THE FACTOR-VIII (F8C) GENE IN HUMAN SPERM DNA

The methylation status of 12 CpG sites in three exons of the human fac tor VIII (F8C) gene was examined by bisulphite genomic sequencing of h uman sperm DNA from 14 European Caucasians and Asians. Different CpG s ites were found to vary in their methylation status both within and be tween individuals. Strand differences in methylation status were also detected at certain sites, a finding that could reflect hemi-methylati on. No evidence for systematic deviations in methylation status were f ound between the two ethnic groups. Only a limited correlation was obs erved between the level of methylation of specific CpG sites in sperm DNA and their mutability, a finding that is probably attributable to t he pattern of methylation observed in mature spermatocytes not being r epresentative of that of the germline.