Journal of Lipid Research, Vol 31, 71-77, Copyright © 1990 by Lipid Research, Inc.
Molecular basis of five apolipoprotein B gene polymorphisms in noncoding regions
LS Huang, ME Ripps and JL Breslow
Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021.
Restriction fragment length polymorphisms (RFLPs) are useful in linkage and
clinical association studies of human diseases. In this report, we
characterize the molecular basis and frequencies of two new RFLPs, AvaII
and BalI, two previously reported RFLPs, HincII and PvuII, and one new
sequence polymorphism in the human apolipoprotein B gene. For the AvaII
RFLP, the two alleles yield either a 1 kb fragment or 0.7 and 0.3 kb
fragments, and have frequencies of 20% and 80%, respectively. The
polymorphic site is about 4 kb upstream of exon 1. For the BalI RFLP, the
two alleles yield either a 4.9 or 6.2 kb fragment, and have about equal
frequencies. The polymorphic site is within an Alu sequence in intron 20,
146 bp 5' to exon 21. The BalI recognition sequence TGGCCA is replaced by
TAGCCA. For the HincII RFLP, the two alleles yield either a 1.7 or 1.3 kb
fragment and have frequencies of 80% and 20%, respectively. The polymorphic
site is in intron 4, 171 bp 3' to exon 4. The HincII recognition sequence
GTTAAC, present in the minor allele, is replaced by GTTACC. HincII
fragments of 7.4 and 7.0 kb, previously reported for this polymorphism, are
the result of partial digestion at the invariant HincII site in intron 3,
334 bp 3' to exon 3. For the PvuII RFLP, the two alleles yield either a 7.5
or 5.5 kb fragment and have frequencies of 96% and 4%, respectively. The
polymorphic site is within an Alu sequence in intron 4, 523 bp 5' to exon
5.(ABSTRACT TRUNCATED AT 250 WORDS)
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