HLA-A null haplotype by HLA-A deletion

律子, 林; 嘉久, 渡辺; 善英, 石川; 貢一, 柏瀬; 雅子, 山崎; 郁世, 内野; 公良, 伊村; 馨, 興津; 隆善, 浅井; 孝良, 小松; 勝則, 清水

doi:10.12667/mhc.11.11

Cited by 1 publication

(2 citation statements)

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“…In addition, a nonexpressed HLA-A allele that was suggested to involve a deletion of all or part of the gene was reported in a Caucasian family (16), although detailed molecular analysis was not performed. We also found a Japanese family in which an HLA-A gene deletion was present and performed a preliminary study (17).…”

Section: Introductionmentioning

confidence: 99%

“…In this study, we discovered a large-scale deletion that includes the entire HLA-A gene, accompanied by an SVA retrotransposon insertion in Japanese families. We previously reported a preliminary study on an HLA-A nonexpressed allele identified in a Japanese family (17). The HLA-A nonexpressed allele was considered to have a deletion of approximately 10 kb, including entire or part of HLA-A gene.…”

Section: Introductionmentioning

confidence: 99%

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Deletion of entire HLA‐A gene accompanied by an insertion of a retrotransposon

Takasu

Hayashi

Maruya³

et al. 2007

Tissue Antigens

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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.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%