Three apolipoprotein B restriction fragment length polymorphisms (RFLPs) (X
baI, MspI, and EcoRI) and the signal peptide insertion-deletion polymorphis
m were investigated using the polymerase chain reaction in 140 individuals
from 5 Brazilian Indian tribes, All studied markers were polymorphic in thi
s ethnic group. The insertion allele 5'beta SP*29 at the signal peptide pre
viously observed in Mexican Americans was detected in about 8% of the chrom
osomes of 2 tribes (Gaviao and Zoro), therefore confirming the Amerindian o
rigin of this allele. Negative linkage disequilibrium was observed between
alleles at the signal peptide and the EcoRI polymorphism in all tribes. In
3 populations (Gaviao, Surui, and Zoro) a negative disequilibrium was also
detected between the insertion-deletion signal peptide markers and the XbaI
polymorphism In the whole sample of Amerindians 14 of the 24 (58%) possibl
e 4-marker extended haplotypes were identified, but only haplotype 2 (5'bet
a SP*24/*X+/*M+/*E+) and haplotype 5 (5'beta SP*27/*X-/*M+/*E+) were shared
by all tribes. No associations between plasma lipid levels or body mass in
dex and these polymorphisms were observed in this sample.