Sequence and functional changes in a putative enhancer region upstream of the apolipoprotein (a) gene

LH Puckey, BL Knight - Atherosclerosis, 2003 - Elsevier
Two enhancer regions upstream of the apolipoprotein (a)(apo (a)) gene were amplified and
sequenced from subjects who were known to express abnormally high or low amounts of
lipoprotein (a)(Lp (a)). No base changes were found in the DHII region situated 28 kb from
the apo (a) gene. Three common base substitutions were found in the DHIII region about 20
kb from the gene. One, an A to G change at position− 1230, increased the activity of reporter-
gene constructs approximately 2.5-fold. The other two, a C to A change at− 1617 and a G to …