Identification of a novel HLA-DQB1*03 allele caused by variant of a single nucleotide / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 282-285, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879572
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To delineate the characteristics of a novel HLA-DQB1 allele identified during routine HLA matching in a leukemia family.@*METHODS@#The mother and brother of the patient were subjected to PCR sequence-specific oligonucleotide probe (SSOP), PCR sequence-based typ1ing (SBT), as well as next-generation sequencing (NGS).@*RESULTS@#PCR-SBT revealed that the patient's mother and brother's HLA-DQB1 sequences did not fully match with any known allele combination. NGS revealed that the novel allele has differed from the closest matched DQB1*03:02 with a T>G substitution at position 233 in exon 2, which resulted in substitution of Valine at codon 46 by Glycine. Pedigree analysis confirmed that the novel HLA-DQB1 allele was inherited from his mother.@*CONCLUSION@#A novel HLA-DQB1 allele has been identified through next generation sequencing and was officially named as HLA-DQB1*03:362 by the World Health Organization HLA Factor Nomenclature Committee.
Full text:
1
Index:
WPRIM
Main subject:
Base Sequence
/
Sequence Analysis, DNA
/
Polymorphism, Single Nucleotide
/
Alleles
/
HLA-DQ beta-Chains
/
Nucleotides
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article