title: Alu insertion polymorphisms for the study of human genomic diversity.
abstract: Genomic database mining has been a very useful aid in the identification and retrieval of recently integrated Alu elements from the human genome. We analyzed Alu elements retrieved from the GenBank database and identified two new Alu subfamilies, Alu Yb9 and Alu Yc2, and further characterized Yc1 subfamily members. Some members of each of the three subfamilies have inserted in the human genome so recently that about a one-third of the analyzed elements are polymorphic for the presence/absence of the Alu repeat in diverse human populations. These newly identified Alu insertion polymorphisms will serve as identical-by-descent genetic markers for the study of human evolution and forensics. Three previously classified Alu Y elements linked with disease belong to the Yc1 subfamily, supporting the retroposition potential of this subfamily and demonstrating that the Alu Y subfamily currently has a very low amplification rate in the human genome.
authors.affiliation: Tulane Cancer Center, Department of Environmental Health Sciences, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA.
authors.forename: A M
authors.initials: AM
authors.lastname: Roy-Engel
authors.forename: M L
authors.initials: ML
authors.lastname: Carroll
authors.forename: E
authors.initials: E
authors.lastname: Vogel
authors.forename: R K
authors.initials: RK
authors.lastname: Garber
authors.forename: S V
authors.initials: SV
authors.lastname: Nguyen
authors.forename: A H
authors.initials: AH
authors.lastname: Salem
authors.forename: M A
authors.initials: MA
authors.lastname: Batzer
authors.forename: P L
authors.initials: PL
authors.lastname: Deininger
mesh_terms: D020087:Alu Elements; D001483:Base Sequence; D004247:DNA; D017931:DNA Primers; D019992:Databases as Topic; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D010802:Phylogeny; D011110:Polymorphism, Genetic; D012689:Sequence Homology, Nucleic Acid; D012984:Software
chemical_list: D017931:DNA Primers; D004247:DNA