ABSTRACT
One nucleotide deletion in codon 15 of HLA-B*40:01:02:01 results in a novel null allele, HLA-B*40:510N.
Subject(s)
Alleles , Exons , Histocompatibility Testing , Sequence Deletion , Humans , Base Sequence , Sequence Analysis, DNA/methods , HLA-B40 Antigen/genetics , Codon , HLA-B Antigens/geneticsABSTRACT
One nucleotide substitution in codon 30 of HLA-DRB4*01:03:01:01 results in a novel allele, HLA-DRB4*01:179.
Subject(s)
Alleles , Exons , HLA-DRB4 Chains , Histocompatibility Testing , Humans , Base Sequence , Codon , HLA-DRB4 Chains/genetics , Sequence Alignment , Sequence Analysis, DNAABSTRACT
We report a novel HLA-DRB3*03 allele, now named DRB3*03:65, identified by next-generation sequencing.
Subject(s)
Exons , HLA-DRB3 Chains , Histocompatibility Testing , Humans , Alleles , Base Sequence , Codon , East Asian People , High-Throughput Nucleotide Sequencing , HLA-DRB3 Chains/genetics , Sequence Analysis, DNA/methodsABSTRACT
The novel HLA-A*33:244 allele contains a c.553G>A substitution in exon 3 compared with A*33:03:01:01.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Humans , Alleles , Exons/genetics , HLA-A Antigens/geneticsABSTRACT
BACKGROUND: Though hallux valgus is a common foot deformity, the integrated information on its global prevalence and incidence is relatively lacking. The aim of this research was to assess the global prevalence and incidence of hallux valgus, thus providing reliable data reference for clinical practice. METHODS: A systematic review of global hallux valgus research publications concerning its prevalence and incidence was performed based on six electronic databases ((PubMed, Embase, Cochrane Library, Chinese National Knowledge Infrastructure (CNKI), China Online Journals and CQVIP)) from their inception to November 16, 2022. The search terms included "hallux valgus or bunion and prevalence or incidence or epidemiology." All languages were included. Data were extracted by country, continent, age group, gender and other information. The risk of bias was assessed by the Joanna Briggs Institute Critical Appraisal Instrument for Studies Reporting Prevalence Data by using random-effects models to synthesize available evidence. RESULTS: A total of 45 studies were included in the meta-analysis. The overall pooled estimated prevalence was 19% (95% CI, 13% to 25%) (n=186,262,669) for hallux valgus. In subgroup meta-analyses, the prevalence of hallux valgus was 21.96% (95% CI, 10.95% to 35.46%) in Asia, 3% (95% CI, 0% to 15%) in Africa, 18.35% (95% CI, 11.65% to 26.16%) in Europe, 29.26% (95% CI, 4.8% to 63.26%) in Oceania, and 16.1% (95% CI, 5.9% to 30.05%) in North America, respectively. The pooled prevalence of hallux valgus by gender was 23.74% (95% CI, 16.21% to 32.21%) for females and 11.43% (95% CI, 6.18% to 18%) for males. The prevalence was 11% (95% CI, 2% to 26%) in individuals younger than 20 years old, 12.22% in adults aged 20-60 years (95% CI, 5.86% to 20.46%) and 22.7% in elderly people aged over 60 years (95% CI, 13.1% to 33.98%). CONCLUSION: This research provided the global prevalence and incidence of hallux valgus in terms of its spatial, temporal, and population distribution. The global estimated pooled prevalence and incidence of hallux valgus was 19%. A higher prevalence of hallux valgus was found in females, Oceania countries, and among people aged over 60 years. Due to the high heterogeneity of the included studies, the findings should be interpreted with caution.
Subject(s)
Bunion , Hallux Valgus , Adult , Aged , Female , Male , Humans , Middle Aged , Young Adult , Hallux Valgus/epidemiology , Incidence , Prevalence , ChinaABSTRACT
One nucleotide substitution in codon 116 of HLA-B*40:06:01:12 results in a novel allele, HLA-B*40:537.
Subject(s)
East Asian People , HLA-B Antigens , Humans , Alleles , High-Throughput Nucleotide Sequencing , Histocompatibility Testing , HLA-B Antigens/genetics , Sequence Analysis, DNAABSTRACT
OBJECTIVE: To confirm the HLA genotypes of the samples including 4 cases of magnetic bead probe HLA genotyping result pattern abnormality and 3 cases of ambiguous result detected by PCR sequence-specific oligonudeotide probe (SSOP) method. METHODS: All samples derived from HLA high-resolution typing laboratory were detected by PCR-SSOP. A total of 4 samples of magnetic bead probe HLA genotyping result pattern abnormality and 3 samples of ambiguous result were further confirmed by PCR sequence-based typing (SBT) technology and next-generation sequencing (NGS) technology. RESULTS: A total of 4 samples of magnetic bead probe HLA genotyping result pattern abnormality were detected by PCR-SSOP method. The results of SBT and NGS showed that the HLA-A genotype of sample 1 did not match any known genotypes. NGS analysis revealed that the novel allele was different from the closest matching allele A*31:01:02:01at position 154 with G>A in exon 2, which resulting in one amino acid substitution at codon 28 from Valine to Methionine (p.Val28Met). The HLA-C genotype of sample 2 was C*03:119, 06:02, sample 3 was C*03:03, 07:137, and sample 4 was B*55:02, 55:12. A total of 3 samples with ambiguous result were initially detected by PCR-SSOP method. The re-examination results of SBT and NGS showed that the HLA-B genotype of sample 5 was B*15:58, 38:02, sample 6 was DRB1*04:05, 14:101, and sample 7 was DQB1*03:34, 05:02. Among them, alleles C*03:119, C*07:137 and DRB1*14:101 were not included in the Common and Well-documented Alleles (CWD) v2.4 of the Chinese Hematopoietic Stem Cell Donor Database. CONCLUSION: The abnormal pattern of HLA genotyping results of magnetic probe by PCR-SSOP method suggests that it may be a rare allele or a novel allele, which needs to be verified by sequencing.
Subject(s)
High-Throughput Nucleotide Sequencing , Technology , Humans , Alleles , Polymerase Chain Reaction , Genotype , Histocompatibility Testing/methodsABSTRACT
HLA-DRB1*14:239 differs from HLA-DRB1*14:03:01 by one nucleotide substitution in codon 82 in exon 2.
Subject(s)
HLA-DRB1 Chains , Humans , HLA-DRB1 Chains/genetics , Alleles , Base Sequence , Exons/genetics , MutationABSTRACT
One nucleotide substitution in codon 73 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:396.
Subject(s)
Asian People , HLA-A Antigens , Alleles , Asian People/genetics , Base Sequence , China , Codon , HLA-A Antigens/genetics , Humans , Sequence Analysis, DNAABSTRACT
A*30:154 differs from A*30:01:01:01 by one nucleotide substitution at codon 39 in exon 2 from C to A.
Subject(s)
HLA-A Antigens , High-Throughput Nucleotide Sequencing , Alleles , HLA-A Antigens/genetics , Histocompatibility Testing , Humans , Sequence Analysis, DNAABSTRACT
HLA-DQB1*03:13 differs from HLA-DQB1*03:01:01:01 by one nucleotide substitution in codon 67 in exon 2.