A processed HLA-A*24:02 pseudogene found in the peripheral blood of a father and his son

S. Y. Ko; H. B. Oh; Y. H. Sohn; J. Jun; O. J. Kwon

doi:10.1111/j.1399-0039.2010.01605.x

A processed HLA-A*24:02 pseudogene found in the peripheral blood of a father and his son

S. Y. Ko
, H. B. Oh^*
, Y. H. Sohn
, J. Jun
, O. J. Kwon

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	244-246
Number of pages	3
Journal	Tissue Antigens
Volume	77
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0039.2010.01605.x
Publication status	Published - 2011 Mar
Externally published	Yes

Keywords

HLA
Pseudogene
Sequence-based typing
Sequence-specific primer
Variant

ASJC Scopus subject areas

Immunology and Allergy
Immunology
Biochemistry
Genetics

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10.1111/j.1399-0039.2010.01605.x

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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.",

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AU - Ko, S. Y.

AU - Oh, H. B.

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AU - Jun, J.

AU - Kwon, O. J.

PY - 2011/3

Y1 - 2011/3

N2 - 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.

AB - 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.

KW - HLA

KW - Pseudogene

KW - Sequence-based typing

KW - Sequence-specific primer

KW - Variant

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A processed HLA-A*24:02 pseudogene found in the peripheral blood of a father and his son

Abstract

Keywords

ASJC Scopus subject areas

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