Cooper D N, Youssoufian H
Haematology Department, King's College School of Medicine and Dentistry, London, UK.
Hum Genet. 1988 Feb;78(2):151-5. doi: 10.1007/BF00278187.
Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-fold higher than that predicted from random mutations. These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease.
对基因编码区域内导致人类遗传病的单碱基对突变报告进行了整理。发现35%的突变发生在CpG二核苷酸内。这些突变中超过90%是C→T或G→A转换，因此在编码区域内发生的频率比随机突变预测的频率高42倍。这些发现与5-甲基胞嘧啶的甲基化诱导脱氨作用一致，并表明编码区域内DNA的甲基化可能对人类遗传病的发生率有显著贡献。
