Genetic analysis of a Chinese pedigree with an allele dropout at the HLA-B locus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 47-51, 2024.
Article
em Zh
| WPRIM
| ID: wpr-1009352
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To delineate a deletional mutation of the HLA-B gene in a Chinese pedigree.@*METHODS@#A female patient with acute myeloid leukemia who had visited Liuzhou People's Hospital in April 2022 was selected as the study subject. Routine human leukocyte antigen (HLA) was determined by using PCR-sequence specific oligonucleotide polymorphism (PCR-SSOP) and PCR-sequence-based typing (PCR-SBT) methods. Next generation sequencing (NGS) was used to validate the candidate variant in the HLA-B gene.@*RESULTS@#The PCR-SBT and SSOP results for the HLA-B locus were inconsistent for the patient and her daughter. The SSOP results of the two individuals were HLA-B*35:01, 40:02 and HLA-B*35:01, 40:01, respectively. However, the PCR-SBT results has indicated a mismatch with the nearest HLA-B*35:01 at exon 4. NGS results showed that the HLA-B*35:01 had a 9 bp deletion in the intron 5. The patient's husband was HLA-B*40:01, 58:01, which was normal.@*CONCLUSION@#The variant in intron 5 of the HLA-B gene in this pedigree has mapped to a primer-binding region for the SBT reagent, which has affected the accuracy of PCR-SBT results.
Texto completo:
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Índice:
WPRIM
Assunto principal:
Linhagem
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Teste de Histocompatibilidade
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Antígenos HLA-B
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China
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Análise de Sequência de DNA
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Alelos
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Antígenos HLA
Limite:
Female
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Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2024
Tipo de documento:
Article