RESUMEN
HLA-DPB1*21:01:02 differs from HLA-DPB1*21:01:01 by one single nucleotide substitution at position 435 C>T in exon 3.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DP , Prueba de Histocompatibilidad , Secuenciación de Nanoporos , Humanos , Cadenas beta de HLA-DP/genética , Prueba de Histocompatibilidad/métodos , Secuenciación de Nanoporos/métodos , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Donantes de Tejidos , Alineación de SecuenciaRESUMEN
HLA-DQB1*05:305 shows one single nucleotide substitution at position 664 compared with HLA-DQB1*05:03:01:01.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Cadenas beta de HLA-DQ/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Polimorfismo de Nucleótido Simple , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Análisis de Secuencia de ADN/métodosRESUMEN
The Zhejiang Han population, a subgroup of the Southern Han ethnic group, resides in Zhejiang Province, situated on the southeast coast of China. In this study, we conducted HLA genotyping for 813 voluntary umbilical cord blood donors from the Zhejiang Han population, targeting 11 HLA loci, namely HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1, using the next-generation sequencing method. Our analysis of the alleles and haplotypes revealed a high degree of polymorphism within these loci. A total of 289 unique HLA alleles were identified, with the HLA-B locus exhibiting the most significant diversity, while HLA-DRB4 displayed the lowest variation. Due to the inherent limitations of the sequencing method, some unresolvable alleles in the specific loci, such as HLA-DRB1, HLA-DPA1, and HLA-DPB1, were assigned as G group designation. In our comprehensive analysis across all 11 HLA loci, a total of 1204 haplotypes were estimated. The distribution of these alleles was similar to those of the Chinese Southern Han population while highly different from the Caucasian population. These findings contribute to a deeper understanding of the genetic characteristics of HLA loci within the Chinese Southern Han population.
RESUMEN
HLA-B*51:360 differs from HLA-B*51:01:01:01 by a single nucleotide substitution at position 955 G > A in exon 5.
Asunto(s)
Alelos , Pueblo Asiatico , Secuencia de Bases , Exones , Prueba de Histocompatibilidad , Humanos , Pueblo Asiatico/genética , Análisis de Secuencia de ADN/métodos , Polimorfismo de Nucleótido Simple , Antígenos HLA-B/genética , Alineación de Secuencia , Codón , Pueblos del Este de AsiaRESUMEN
Human blood group antigen has important biological functions, and transfusion of incompatible blood can cause alloimmunization and may lead to serious hemolytic reactions. Currently, serological methods are most commonly used in blood group typing. However, this technique has certain limitations and cannot fully meet the increasing demand for the identification of blood group antigens. This study describes a next-generation sequencing (NGS) technology platform based on exon and flanking region capture probes to detect full coding exon and flanking intron regions of the 36 blood group systems, providing a new high-throughput method for the identification of blood group antigens. The 871 capture probes were designed for the exon and flanking intron sequences of 36 blood group system genes, and synchronization analysis for 36 blood groups was developed. The library for NGS was tested using the MiSeq Sequencing Reagent Kit (v2, 300 cycles) by Illumina NovaSeq, and the data were analyzed by the CLC Genomics Workbench 21.0 software. A total of 199 blood specimens have been sequenced for the 41 genes from 36 blood groups. Among them, heterozygote genotypes were found in the ABO, Rh, MNS, Lewis, Duffy, Kidd, Diego, Gerbich, Dombrock, Globoside, JR, LAN, and Landsteiner-Wiene blood group systems. Only the homozygous genotype was found in the remaining 22 blood group systems. The obtained data in the NGS method shows a good correlation (99.98 %) with those of the polymerase chain reaction-sequence-based typing. An NGS technology platform for 36 blood group systems genotyping was successfully established, which has the characteristics of high accuracy, high throughput, and wide coverage.
RESUMEN
HLA-DRB1*09:54 shows a substitution G to A at position 449 when compared with HLA-DRB1*09:01:02:01.
Asunto(s)
Alelos , Pueblo Asiatico , Exones , Cadenas HLA-DRB1 , Prueba de Histocompatibilidad , Humanos , Cadenas HLA-DRB1/genética , Pueblo Asiatico/genética , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Sustitución de Aminoácidos , Alineación de Secuencia , Polimorfismo de Nucleótido Simple , Codón , Pueblos del Este de AsiaRESUMEN
HLA-B*46:96 differs from HLA-B*46:01:01:01 by a single nucleotide substitution at position 479 C>T.
Asunto(s)
Alelos , Antígenos HLA-B , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Antígenos HLA-B/genética , Exones , Prueba de Histocompatibilidad/métodos , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Análisis de Secuencia de ADN/métodosRESUMEN
HLA-A*11:01:117 differs from HLA-A*11:01:01:01 by a single nucleotide substitution at position 780 A>G.
Asunto(s)
Alelos , Exones , Antígeno HLA-A11 , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Antígeno HLA-A11/genética , Prueba de Histocompatibilidad/métodos , Polimorfismo de Nucleótido Simple , Secuencia de BasesRESUMEN
Background: Blood safety levels have been significantly improved since the implementation of nucleic acid amplification technology (NAT) testing for blood donors. However, there remains a residual risk of transfusion transmission infections. This study aimed to evaluate the prevalence of HIV and its residual risk transmission among volunteer blood donors of Zhejiang Province, China, for five years after NAT implementation. Materials and Methods: All specimens and information were collected from voluntary unpaid donors at all blood services in Zhejiang Province, China, from January 2018 to December 2022. The HIV antibody or antigen and HIV RNA were detected using enzyme-linked immunosorbent assay and NAT, respectively. The HIV residual risk transmission was calculated using the incidence or window period model. Results: A total of 3,375,678 voluntary blood donors were detected, revealing an HIV prevalence of 9.92/100000. The HIV prevalence of blood donors in 12 blood services in Zhejiang Province was 6.11, 6.98, 7.45, 8.21, 8.36, 8.94, 9.04, 9.66, 9.73, 10.22, 11.80, and 12.47 per 100000 donors, without statistically significant difference observed among the services (p > 0.05). The HIV prevalence of males (15.49/100000) was significantly higher compared to females (1.95/100000; p < 0.05). There was an insignificant difference in HIV prevalence among blood donors of all different age groups (p > 0.05), but the HIV prevalence in the 26-35 age group and 18-25 age group was significantly higher compared to the 36-45 age group (p < 0.05). The difference in HIV prevalence between first-time blood donors (13.65/100,000) and repeat blood donors (6.78/100,000) was statistically significant (p < 0.05). From 2018 to 2022, the HIV residual risk in blood transfusion transmission was 0.266/100000. Conclusion: The prevalence of HIV among blood donors in Zhejiang Province, China, is associated with age, gender, and times of blood donation. The HIV residual risk in blood transfusion transmission remains low in the province, and increasing the rate of repeat blood donors is beneficial to improve blood safety.
RESUMEN
HLA-DRB1*11:298 shows one single nucleotide substitution at position 397 T>G compared with HLA-DRB1*11:01:01:01.
Asunto(s)
Alelos , Pueblo Asiatico , Donantes de Sangre , Exones , Sangre Fetal , Cadenas HLA-DRB1 , Prueba de Histocompatibilidad , Humanos , Cadenas HLA-DRB1/genética , Pueblo Asiatico/genética , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodos , China , Alineación de Secuencia , Pueblos del Este de AsiaRESUMEN
HLA-C*03:620 differs from the HLA-C*03:04:01:02 allele by one nucleotide substitution in the exon 3.
Asunto(s)
Alelos , Pueblo Asiatico , Secuencia de Bases , Exones , Antígenos HLA-C , Prueba de Histocompatibilidad , Humanos , Antígenos HLA-C/genética , Pueblo Asiatico/genética , Análisis de Secuencia de ADN/métodos , Codón , Alineación de Secuencia , Polimorfismo de Nucleótido Simple , Pueblos del Este de AsiaRESUMEN
HLA-DQB1*06:466 differs from HLA-DQB1*06:01:01:01 by a single nucleotide substitution at position 571GâA.
Asunto(s)
Alelos , Pueblo Asiatico , Donantes de Sangre , Exones , Sangre Fetal , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Cadenas beta de HLA-DQ/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Pueblo Asiatico/genética , Prueba de Histocompatibilidad/métodos , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Pueblos del Este de AsiaRESUMEN
Compared with HLA-DRB1*12:02, the alleles HLA-DRB1*12:92 and HLA-DRB1*12:101 each show one nucleotide substitution respectively.
Asunto(s)
Alelos , Cadenas HLA-DRB1 , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Humanos , Cadenas HLA-DRB1/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Exones , Polimorfismo de Nucleótido Simple , Secuencia de Bases , Análisis de Secuencia de ADN/métodosRESUMEN
The novel HLA-DPA1*02:02:15 allele differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution in exon 1.
Asunto(s)
Cadenas alfa de HLA-DP , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Prueba de Histocompatibilidad , Cadenas alfa de HLA-DP/genéticaRESUMEN
HLA-C*07:04:29 differs from HLA-C*07:04:01:01 by a single substitution in exon 4.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Humanos , Alelos , China , Secuenciación de Nucleótidos de Alto Rendimiento , Antígenos HLA-C/genética , Pueblos del Este de AsiaRESUMEN
Compared with HLA-DRB1*08:03:02:01, the alleles HLA-DRB1*08:03:13 and HLA-DRB1*08:119 each show one nucleotide substitution, respectively.
Asunto(s)
Nucleótidos , Humanos , Alelos , Cadenas HLA-DRB1/genéticaRESUMEN
The HLA-B*40:538 allele differs from HLA-B*40:01:02:01 at position 905 CâT in exon 5.
Asunto(s)
Genes MHC Clase I , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Exones/genética , Antígenos HLA-B/genéticaRESUMEN
Polymorphism of killer-cell immunoglobulin-like receptors (KIRs) and their HLA class I ligands impacts the effector activity of cytotoxic NK cell and T cell subsets. Therefore, understanding the extent and implications of KIR and HLA class I genetic polymorphism across various populations is important for immunological and medical research. In this study, we conducted a high-resolution investigation of KIR and HLA class I diversity in three distinct Chinese ethnic minority populations. We studied the She, Yugur, and Tajik, and compared them with the Zhejiang Han population (Zhe), which represents the majority Southern Han ethnicity. Our findings revealed that the Tajik population exhibited the most diverse KIR copy number, allele, and haplotype diversity among the four populations. This diversity aligns with their proposed ancestral origin, closely resembling that of Iranian populations, with a relatively higher presence of KIR-B genes, alleles, and haplotypes compared with the other Chinese populations. The Yugur population displayed KIR distributions similar to those of the Tibetans and Southeast Asians, whereas the She population resembled the Zhe and other East Asians, as confirmed by genetic distance analysis of KIR. Additionally, we identified 12.9% of individuals across the three minority populations as having KIR haplotypes characterized by specific gene block insertions or deletions. Genetic analysis based on HLA alleles yielded consistent results, even though there were extensive variations in HLA alleles. The observed variations in KIR interactions, such as higher numbers of 2DL1-C2 interactions in Tajik and Yugur populations and of 2DL3-C1 interactions in the She population, are likely shaped by demographic and evolutionary mechanisms specific to their local environments. Overall, our findings offer valuable insights into the distribution of KIR and HLA diversity among three distinct Chinese ethnic minority populations, which can inform future clinical and population studies.
Asunto(s)
Pueblos del Este de Asia , Minorías Étnicas y Raciales , Grupos Minoritarios , Receptores KIR , Humanos , Alelos , China , Pueblos del Este de Asia/genética , Etnicidad/genética , Genotipo , Receptores KIR/genéticaRESUMEN
The novel HLA-DPB1*1437:01 and HLA-DPB1*1438:01 alleles first identified in the Chinese individuals.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DP/genéticaRESUMEN
HLA-DPA1*02:86 differs from HLA-DPA1*02:01:01 by a single nucleotide substitution at position 680 C > A in exon 4.