Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon.
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.
Takasu
M
M
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Hayashi
R
R
Maruya
E
E
Ota
M
M
Imura
K
K
Kougo
K
K
Kobayashi
C
C
Saji
H
H
Ishikawa
Y
Y
Asai
T
T
Tokunaga
K
K
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*
D015234:HLA-A Antigens; D018626:Retroelements