No severe bottleneck during human evolution: Evidence from two apolipoprotein C-II deficiency alleles

W. Xiong, W. H. Li, I. Posner, T. Yamamura, A. Yamamoto, A. M. Gotto, L. Chan

Research output: Contribution to journalArticle

33 Scopus citations

Abstract

The DNA sequences of a Japanese and a Venezuelan apolipoprotein (apo) C-II deficiency allele, of a normal Japanese apo C-II gene, and of a chimpanzee apo C-II gene were amplified by PCR, and their nucleotide sequences were determined on multiple clones of the PCR products. The normal Japanese sequence is identical to - and the chimpanzee sequence differs by only three nucleotides from - a previously published normal Caucasian sequence. In contrast, the two human mutant sequences each differ from the normal apo C-II gene sequence by several nucleotides, including deletions. The data suggest that both mutant alleles arose >500,000 years ago. It is shown that a defective allele can persist in a population for only a short time if a bottleneck occurs. Therefore, the antiquity of the two alleles suggests no severe bottleneck during human evolution. Moreover, the fact that one allele is from Japan and the other is from a Venezuelan Caucasian family is more consistent with the multiregional evolution model of modern human origins than with the complete replacement or "out of Africa" model.

Original languageEnglish (US)
Pages (from-to)383-389
Number of pages7
JournalAmerican Journal of Human Genetics
Volume48
Issue number2
StatePublished - 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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