title: A processed HLA-A*24:02 pseudogene found in the peripheral blood of a father and his son.
abstract: We encountered a case that exhibited a discrepancy in human leukocyte antigen-A (HLA-A) type determined by sequence-based typing (SBT) and sequence-specific primer (SSP) molecular typing. The child of this case was identified as A* 02:01 homozygote and A* 02, A* 24, respectively. The HLA-A type of his father was A* 02:01, 26:01, but low-resolution SSP also showed unexpected amplification with A* 24 primers as with the child. Serologic typing of the child and the father was A2/blank and A2/A26, respectively. Sequencing analysis of the A* 24 variant in the child and the father showed a complete deletion of all introns of the A* 24:02 allele. Though rare, this type of processed pseudogene variant can be one of the causes of discrepancies between high- and low-resolution HLA typing.
authors.affiliation: Laboratory Medicine, Asan Medical Center, Seoul, South Korea.
authors.forename: S-Y
authors.initials: SY
authors.lastname: Ko
authors.forename: H-B
authors.initials: HB
authors.lastname: Oh
authors.forename: Y-H
authors.initials: YH
authors.lastname: Sohn
authors.forename: J
authors.initials: J
authors.lastname: Jun
authors.forename: O-J
authors.initials: OJ
authors.lastname: Kwon
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005219:Father-Child Relations; D005220:Fathers; D015234:HLA-A Antigens / Q000097:blood* / Q000235:genetics*; D059871:HLA-A24 Antigen; D006801:Humans; D008297:Male; D009679:Nuclear Family; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D015234:HLA-A Antigens; C438506:HLA-A*24:02 antigen; D059871:HLA-A24 Antigen