title: Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon.
abstract: Unusual HLA-A'null' alleles because of an entire gene deletion were found in three apparently unrelated Japanese families with leukemia patients. Inclusion of the entire HLA-A gene in the deletion was confirmed by polymerase chain reaction direct sequencing of the surrounding regions of HLA-A. Further localization of the breakpoints of the HLA-A deletion at the centromeric and telomeric sides was performed, and these families were shown to possess the identical deletion. We then determined the genomic sequence of the HLA-A-deleted haplotype. Surprisingly, the haplotype turned out to carry an insertion of an SVA (SINE-VNTR-Alu) retrotransposon of 2 kb as well as the 14 kb deletion that included the entire HLA-A gene.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Takasu
authors.forename: R
authors.initials: R
authors.lastname: Hayashi
authors.forename: E
authors.initials: E
authors.lastname: Maruya
authors.forename: M
authors.initials: M
authors.lastname: Ota
authors.forename: K
authors.initials: K
authors.lastname: Imura
authors.forename: K
authors.initials: K
authors.lastname: Kougo
authors.forename: C
authors.initials: C
authors.lastname: Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Saji
authors.forename: Y
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: T
authors.initials: T
authors.lastname: Asai
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D005260:Female; D017353:Gene Deletion; D015234:HLA-A Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D018626:Retroelements / Q000235:genetics*
chemical_list: D015234:HLA-A Antigens; D018626:Retroelements