ADENINE FOR GUANINE SUBSTITUTION - 78 BASE-PAIRS 5' TO THE APOLIPOPROTEIN (APO) A-I GENE - RELATION WITH HIGH-DENSITY-LIPOPROTEIN CHOLESTEROL AND APO A-I CONCENTRATIONS
F. Civeira et al., ADENINE FOR GUANINE SUBSTITUTION - 78 BASE-PAIRS 5' TO THE APOLIPOPROTEIN (APO) A-I GENE - RELATION WITH HIGH-DENSITY-LIPOPROTEIN CHOLESTEROL AND APO A-I CONCENTRATIONS, Clinical genetics, 44(6), 1993, pp. 307-312
A common mutation, adenine (A) for guanidine (G) substitution (G/A) ha
s been located - 78 bp 5' to the apo A-I gene. This region has been sh
own to be involved in the transcriptional regulation of the apo A-I ge
ne. Previous studies have shown that this mutation is associated with
altered high density lipoprotein cholesterol (HDL-C) levels, although
these findings have not been consistent. We have studied the frequency
of this mutation in 125 subjects (60 males and 65 females) selected b
ecause they had HDL-C levels below the 25th (low HDL) or above the 75t
h (high HDL) percentile of the population distribution. The presence o
f the mutation was detected by Msp I digestion of a 259 bp fragment of
PCR amplified DNA. The allele frequency was similar in both groups (0
.20 for the lowest HDL group and 0. 28 for the highest HDL group, p >
0.05), although a non-significant trend was observed in a higher frequ
ency of the A/A genotype in the highest HDL females (17.5%) vs only 6.
7% in the lowest HDL female group. In conclusion, in this population t
he G/A mutation was not significantly associated with HDL-C or apo A-I
plasma levels.