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Nature Genetics  19, 233 - 240 (1998)

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene

Deborah A. Nickerson1, Scott L. Taylor1, Kenneth M. Weiss2, Andrew G. Clark3, Richard G. Hutchinson4, Jari Stengård5, Veikko Salomaa5, Erkki Vartiainen5, Eric Boerwinkle6 & Charles F. Sing7

1  Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, Washington 98125, USA.

2  Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16802, USA.

3  Institute of Molecular Evolutionary Genetics, Department of Biology, Pennsylvania State University, University Park, Pennsylvania 16802, USA.

4  Preventive Cardiology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.

5  National Public Health Institute, Department of Epidemiology and Health Promotion, Helsinki, Finland.

6  Human Genetics Center, University of Texas Health Science Center, Houston, Texas 77225, USA.

7  Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.

Correspondence should be addressed to Deborah A. Nickerson
Lipoprotein lipase plays a central role in lipid metabolism and the gene that encodes this enzyme (LPL) is a candidate susceptibility gene for cardiovascular disease. Here we report the complete sequence of a fraction of the LPL gene for 71 individuals (142 chromosomes) from three populations that may have different histories affecting the organization of the sequence variation. Eighty-eight sites in this 9.7 kb vary among individuals from these three populations. Of these, 79 were single nucleotide substitutions and 9 sites involved insertion-deletion variations. The average nucleotide diversity across the region was 0.2% (or on average 1 variable site every 500 bp). At 34 of these sites, the variation was found in only one of the populations, reflecting the differing population and mutational histories. If LPL is a typical human gene, the pattern of sequence variation that exists in introns as well as exons, even for the small number of samples considered here, will present challenges for the identification of sites, or combinations of sites, that influence variation in risk of disease in the population at large.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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