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Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans

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Abstract

We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphicAlu insertion that occurs within the 8th intron of the tissue plasminogen activator gene (PLAT). ThisAlu is a member of a recently derived subfamily ofAlu elements that has been expanding during human evolution and continues to be transpositionally active. We used a “population tube” approach to screen 10 chromosomes from each of 19 human populations for presence or absence of thisAlu in the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously publishedEcoRI,HincII,PstI,TaqI, andXmnI polymorphisms at the PLAT locus all result from insertion of thisAlu and we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency ofAlu(+) andAlu(−) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for theAlu(−) allele. Human populations differ substantially in allele frequency, and in several populations both alleles are common. Our results date the insertion event prior to the spread and diversification of modern humans.

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  1. Department of Genetics, Yale University, 333 Cedar Street, 06510, New Haven, CT, USA

    S. A. Tishkoff, G. Ruano, J. R. Kidd & K. K. Kidd

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  1. S. A. Tishkoff
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  2. G. Ruano
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  3. J. R. Kidd
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  4. K. K. Kidd
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Tishkoff, S.A., Ruano, G., Kidd, J.R. et al. Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans. Hum Genet 97, 759–764 (1996). https://doi.org/10.1007/BF02346186

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  • DOI: https://doi.org/10.1007/BF02346186

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