The aim of study was to confirm the novel HLA allele HLA-B*3936 in Chinese population and to analyze its sequence. The proband was a cord blood donor in the Zhejiang province. DNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-B exons 2 - 4 of the proband was performed by allele specific primer PCR and the amplified product was sequenced bidirectionally with primers. The sequencing results showed HLA-B alleles of the proband as B*4002 and the novel allele. The sequences of the novel allele have been submitted to GenBank (DQ242650, DQ242651, DQ242652). After Blast HLA analysis, the novel allele showed four nucleotide differences with HLA-B*3901 at nucleotide position 527 T-->A, 538 C-->T, 539 T-->G, 544 A-->G in exon 3. It resulted in three amino acid change from Val to Glu at codon 152, Ile to Trp at codon 156, Thr to Ala at codon 158. The result suggested that this allele is a novel allele and has been officially named HLA-B*3936 by the WHO Nomenclature Committee.
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Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Four novel null-alleles are described from bone marrow donors of Russian Registry.
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January 2025
Kirov Hematology and Blood Transfusion Research Institute Under the Federal Medicine and Biology Agency, Federal State Budget Research Institution, Kirov, Russia.
Four novel HLA-B noncoding variants detected by next-generation sequencing: HLA-B*07:02:107, -B*08:01:78, -B*15:01:89 and -B*52:01:58.
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January 2025
Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
The HLA-DPB1*1498:01 allele differs from HLA-DPB1*02:02:01:01 by a single non-synonymous nucleotide change in exon 4.
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January 2025
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Moscow, Russia.
The new HLA-B*38:01:26 allele showed one synonymous nucleotide difference compared to the HLA-B*38:01:01:01 allele in codon 101.
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