title: Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans.
abstract: We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphic Alu insertion that occurs within the 8th intron of the tissue plasminogen, activator gene (PLAT). This Alu is a member of a recently derived subfamily of Alu 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 this Alu in the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously published EcoRI, HincII, PstI, TaqI, and XmnI polymorphisms at the PLAT locus all result from insertion of this Alu and we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency of Alu(+) and Alu(-) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for the Alu(-) 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.
authors.affiliation: Department of Genetics, Yale University, New Haven, CT 06510, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: Tishkoff
authors.forename: G
authors.initials: G
authors.lastname: Ruano
authors.forename: J R
authors.initials: JR
authors.lastname: Kidd
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
mesh_terms: D001483:Base Sequence; D019143:Evolution, Molecular; D005787:Gene Frequency; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D044469:Racial Groups / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D010959:Tissue Plasminogen Activator / Q000235:genetics*
chemical_list: D010959:Tissue Plasminogen Activator