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Identification of a novel HLA-DQB1*03 allele caused by variant of a single nucleotide / 中华医学遗传学杂志
Article in Chinese | 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*0302 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*03362 by the World Health Organization HLA Factor Nomenclature Committee.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Humans / Male / Base Sequence / Sequence Analysis, DNA / Polymorphism, Single Nucleotide / Alleles / HLA-DQ beta-Chains / Nucleotides Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article
Full text: Available Index: WPRIM (Western Pacific) Main subject: Humans / Male / Base Sequence / Sequence Analysis, DNA / Polymorphism, Single Nucleotide / Alleles / HLA-DQ beta-Chains / Nucleotides Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article