Xl. Wang et al., C-TO-T AND OR G-TO-A TRANSITIONS ARE RESPONSIBLE FOR LOSS OF A MSPI RESTRICTION SITE AT THE 5'-END OF THE HUMAN APOLIPOPROTEIN AI GENE/, Human genetics, 95(4), 1995, pp. 473-474
We detected the loss of a MspI restriction site by a C to T transition
at +83 bp and a G to A transition at +84 bp of the 5'-end non-coding
region of the human apolipoprotein AI gene. This base change occurred
at the ''hot spot'' (CCGG) for methylation, which may be important in
the regulation of gene expression. The population frequency for the lo
ss of the MspI site is 6.1%.