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PMID: 11560904 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Alu insertion polymorphisms for the study of human genomic diversity.

Genetics ·Vol. 159 ·No. 1 ·2001-09-00 ·Pages 279-90

Roy-Engel AM, Carroll ML, Vogel E, Garber RK, Nguyen SV, Salem AH, Batzer MA, Deininger PL

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.

MeSH Terms
Alu Elements Base Sequence DNA DNA Primers Databases as Topic Genetic Variation Genome, Human Genotype Humans Models, Genetic Molecular Sequence Data Phylogeny Polymorphism, Genetic Sequence Homology, Nucleic Acid Software
Chemicals
DNA Primers DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Roy-Engel A M
Tulane Cancer Center, Department of Environmental Health Sciences, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA.
Carroll M L
Vogel E
Garber R K
Nguyen S V
Salem A H
Batzer M A
Deininger P L
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Article Info
Journal
Genetics
Abbr.
Genetics
ISSN
0016-6731
DOI
10.1093/genetics/159.1.279
Published
2001-09-00
Pages
279-90
Language
English
Region
United States
NLM ID
0374636
PMCID
PMC1461783
Subset
IM
Grants
NIGMS NIH HHS · R01 GM45668 · United States
External Links
PubMed source DOI: 10.1093/genetics/159.1.279 PMC Full Text View journal details
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