Serological mistypings of HLA-A and HLA-B in 27 cases were analyzed. The results showed that for HLA-A and HLA-B typing, the rates of incorrect antigen assignments were significantly higher than rates of antigen misses (P < 0.05), but there was no significant difference between HLA-A and HLA-B typings. The frequencies of miss-assigned HLA-A and HLA-B specificities were A1 (66.7%), A3 (50.0%), A11 (13.5%), A9 (11.8%), A19 (7.1%), and B16 (50.0%), B48 (43.9%), B15 (16.7%), B40 (11.1%), B13 (10.0%) and B17 (9.1%). In conclusion, the serologic and DNA-based typing techniques should be reciprocally complementary in HLA-A and HLA-B typing.
Asian Continental Ancestry Group ; China ; HLA-A Antigens ; classification ; genetics ; HLA-B Antigens ; classification ; genetics ; Humans ; Serotyping

BACKGROUND: The HLA system is known to be the most polymorphic genetic system in human, and HLA allele and haplotype distribution varies widely among different ethnic groups. This study was performed to examine the frequencies of HLA alleles and haplotypes in Koreans. METHODS: We examined HLA-A, -B, and -DR alleles at the serologic level in 1,500 cord blood units obtained from Koreans using the PCR-sequence specific oligonucleotide (SSO) method. Allele and haplotype frequencies were estimated by the maximum likelihood method using the computer program developed for the 11th International Histocompatibility Workshop. RESULTS: HLA alleles found in Koreans were 12 in A, 31 in B, and 13 in DR loci. Most frequent alleles with frequencies > or =10% in each locus in decreasing order of frequency were: A2, A24, A33, A11; B62; DR4, DR15, DR9, and DR13. Two-locus haplotypes with frequencies > or =0.1% were 104 A-B and 115 B-DR haplotypes, among which those with frequencies > or =1.0% showing significant positive linkage disequilibrium (P< or =0.001) were 21 A-B and 20 B-DR haplotypes. A total of 169 A-B-DR haplotypes with frequencies > or =0.1% were identified. The results were similar to those of a previous study in 1,600 Koreans, although some differences were noted in the distribution of some less frequent alleles or haplotypes with frequencies < or =0.5%. CONCLUSIONS: We provided the allele and haplotype frequencies of HLA-A, -B, and -DR in cord blood units of Korean ethnicity defined by a DNA typing method, which can be used as basic data on Koreans for organ transplantation and disease association studies.
Fetal Blood ; *Gene Frequency ; HLA-A Antigens/classification/*genetics ; HLA-B Antigens/classification/*genetics ; HLA-DR Antigens/classification/*genetics ; *Haplotypes ; Histocompatibility Testing ; Humans ; Korea ; Polymerase Chain Reaction

This study was aimed to discover the novel HLA recombination haplotypes and investigate the distribution of haplotypes in Chinese Han population. Based on the HLA-A, B, DRB1 typing results of 179 family members, 791 haplotypes were assigned by the mode of inheritance. The results showed that a total of 4 novel recombinant haplotypes in HLA-DRB1 locus region were observed in 4 families, which ratio of paternal to maternal chromosomes was 3:1. The recombination ratio between HLA-DRB1 and HLA-A or B loci was 0.92% (4/433). There were a total of 362 kinds of HLA-A, -B, -DRB1 haplotypes to be confirmed in Chinese Han partial population. A33-B58-DR17, A2-B46-DR9, A30-B13-DR7, A11-B13-DR15, A11-B75-DR12 and A2-B46-DR14 were the most common haplotypes that was consistent with the distribution of HLA alleles in unrelated donors. There were A1-B63-DR12, A29-B46-DR15, A1-B61-DR10, A34-B35-DR9, A29-B54-DR4, A23-B13-DR16 and A34-B62-DR15 haplotypes and so on, which were rare haplotypes not yet reported in Chinese. It is concluded that the HLA-A-B-DRB1 haplotypes would be confirmed by analysis of their family pedigree. The results obtained in this study are basic data for study of Chinese anthropology, organ transplantation and disease correlation analysis.
Alleles ; Asian Continental Ancestry Group ; genetics ; Gene Frequency ; HLA Antigens ; classification ; genetics ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Haplotypes ; Humans ; Pedigree ; Recombination, Genetic

OBJECTIVETo investigate the HLA-A, B, DRB1 allele polymorphism in Monba ethnic population of Xizang Autonomous Region.

METHODSHLA-A, B, DRB1, DNA types in 47 unrelated Monba ethnic healthy individuals from the Xizang Autonomous Region of China were analyzed by polymerase chain reaction-based reverse line-strip sequence specific oligonucleotide hybridization. Based on the HLA-DRB1 alleles frequencies of 11 other ethnic groups in China, a molecular phylogenetic tree was constructed by the Neighbor-Joining (NJ) method.

RESULTSTwenty-three alleles were detected for HLA-A, 39 for HLA-B, and 33 for HLA-DRB1. HLA-A*1101, A*2402, A*02011, A*0206, HLA-B*3802, B*4001, B*4002, B*51011, HLA-DRB1*12021, DRB1*0403, DRB1*0701, DRB1*1201 were the most common alleles. The most frequent alleles were HLA-A*1101(0.2128), HLA-B*3802(0.1064), and HLA-DRB1*12021(0.0851).

CONCLUSIONThe HLA loci are highly polymorphic in Monba population of Xizang Autonomous Region. Compared with other ethnic groups in China, the Monba ethnic group is close to Tibetan ethnic group.

Alleles ; China ; Ethnic Groups ; classification ; genetics ; Gene Frequency ; HLA Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Phylogeny ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics

Human leukocyte antigen (HLA) gene region encodes a set of HLA molecules functioning critical roles in immune response. Each HLA gene locus shows extensive polymorphism with ever-increasing number of alleles. The HLA nomenclature system for alleles defined by DNA typing was first established in 1987 and has been revised several times. Recently, it has been revised again with a new frame that can accommodate ever-increasing number of new alleles. The new system has also introduced the novel suffixes, P and G, to simplify reporting of ambiguous strings of alleles in typing reports. This review introduces the HLA nomenclature system-2010 in conjunction with its clinical application in Koreans.
Alleles ; Asian Continental Ancestry Group/*genetics ; HLA Antigens/classification/*genetics ; Humans ; Republic of Korea ; *Terminology as Topic

HLA genes constitute a highly polymorphic multigene system. In the present study, HLA-B oligonucleotide chips were manufactured by using a set of sequence-specific oligonucleotide probes derived from polymorphic regions in exon 2 and exon 3 of HLA-B gene spotted by microarrayer onto the aldehyde modified glass slides. In addition, the sequenced HLA-B gene clones used as standard samples were amplified from exon 2 and exon 3 by PCR. Together with the correct hybridization and wash conditions, the PCR products were bound with the array probes on the chip, and the hybridization patterns were transformed to HLA-B genotypes. The results showed that the genotypes of standard samples by the HLA-B oligonucleotide chips were completely identical with the sequenced clones. In conclusion, the oligonucleotide chip method presented here for HLA-B genotyping is a rapid, accurate, sensitive and attractive high throughput biochemical way.
Genotype ; HLA-B Antigens ; classification ; genetics ; Humans ; Oligonucleotide Array Sequence Analysis ; Sequence Analysis, DNA

OBJECTIVETo identify a novel HLA allele in Chinese population.

METHODSA new HLA-B allele was initially detected by an usual PCR-SSP and PCR-SSOP in routine typing HLA allele. Sequence-based typing (SBT) was used to identify and analysis the difference between the new allele and HLA-B 4409 allele.

RESULTSThe HLA-B exon 3 nucleotide sequence of the novel allele was different from all other known alleles. The allele had 3 nucleotides replaced of the closest matching B 4409 allele at nt538(G>C), nt539(A>T) and nt540 (C>G) in exon 3, resulting in an amino acid change from D(GAC) to L(CTG) at codon 180.

CONCLUSIONA novel HLA allele was confirmed by the SBT and it was officially designated as HLA-B 4446 by WHO Nomenclature Committee for Factors of the HLA System in September,2005.

Alleles ; Base Sequence ; HLA-B Antigens ; classification ; genetics ; Humans ; Male ; Molecular Sequence Data ; Sequence Analysis, DNA

This study was purposed to investigate the nucleotide sequences of a novel HLA-B*15:124 allele and its molecular mechanism. The genomic DNA from whole blood was extracted by using commercial DNA extraction kit. The sequences of exon 2, 3 and 4 of HLA-B locus in the proband were amplified by PCR with group-specific primers, the PCR products were purified by enzymes digestion, then exon 2 to 4 of HLA-B locus for both orientations was sequenced. The results showed that 2 HLA-B alleles of proband were gained after amplification and sequencing of group-specific primers, among them one was a B*40:03, another was a novel allele. After BLAST analysis, the novel allele showed nucleotides different from HLA-B*15:52 in exon 3 at nucleotide position 427 A > T and 440 G > T which resulted in amino acid change from Thr to Ser at codon 143 and Trp to Leu at conon 147. It is concluded that a novel HLA-B allele has two different nucleotides. This HLA-B allele is identified and has been officially named B*15:124 by the WHO Nomenclature Committee.
Alleles ; Base Sequence ; Exons ; Female ; HLA-B Antigens ; classification ; genetics ; Humans ; Sequence Analysis, DNA

OBJECTIVETo study the relationship between the nonresponse to hepatitis B vaccine and HLA genotype/heplotype in Chinese population and provide the evidence for explaining the genetic mechanism of this nonresponse.

METHODSOur research focused on the relationship between nonresponse to Hepatitis B vaccine and HLA-DRB1, DRB3, DRB4, DRB5 and DQB1 genotype/haplotype in Chinese population, collected from a community in Guangxi Zhuang Autonomous Region. The group specific amplification was employed to characterize 107 individuals' genotype and haplotype of HLA clusters. Different models statistics such as relative risk test, correlation test and linkage disequilibrium analysis were used to analyze the data.

RESULTSThe results showed that there is a linkage disequilibrium between nonresponse to Hepatitis B vaccine and HLA haplotype DR4, 1122 (DRB1 * 0401- 22, 1122)-DR53 (DRB4 * 0101101, 0102/3)-DQB4 (DQB1 * 04).

CONCLUSIONIn Chinese population, nonresponse to hepatitis B vaccine is highly associated with special HLA haplotye.

Asian Continental Ancestry Group ; genetics ; China ; Genotype ; HLA-DQ Antigens ; classification ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; classification ; genetics ; HLA-DRB1 Chains ; HLA-DRB3 Chains ; HLA-DRB4 Chains ; HLA-DRB5 Chains ; Haplotypes ; Hepatitis B ; genetics ; immunology ; prevention & control ; Hepatitis B Vaccines ; immunology ; Humans ; Linkage Disequilibrium

This study was purposed to investigate the relationship between HLA-A, B allele polymorphisms and red blood cell parameters of patients with --(SEA/αα) subtype of α(0)-thalassemia in Han ethnic population of Wuzhou city. The HLA genetic polymorphisms were determined by polymerase chain reaction-sequence-based typing (PCR-SBT) in 57 patients with --(SEA/αα) subtype of α(0)-thalassemia of Han ethnic population in Wuzhou city, Guangxi province, China. Mean corpuscular volume (MCV), hemoglobin (Hb), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) were detected by automatic blood analyzer system. HbA2 were detected by electrophoretic method. The statistical analysis was performed by ordinal polytomous logistic regression. The results showed that Hb and HbA2 levels were significantly lower in patients positive for HLA-A*33:03, B*15:01 or B*55:02, and were significantly higher in patients positive for B*15:02 (P < 0.05). It is concluded that several HLA alleles may be associated with Hb level of --(SEA/αα) subtype of α(0)-thalassemia of Han ethnic population in Wuzhou city. This result has the value for understanding phenotype-genotype relationships in thalassemia.
Adolescent ; Adult ; Alleles ; Child ; Child, Preschool ; China ; epidemiology ; Erythrocytes ; cytology ; Ethnic Groups ; genetics ; Female ; Genotype ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; Hemoglobins, Abnormal ; genetics ; Humans ; Male ; Middle Aged ; Young Adult ; alpha-Thalassemia ; blood ; classification ; epidemiology ; genetics