BACKGROUND: HLA proficiency survey in Korea started in 1996 and the results of the survey were last reported in 1999. In this report, we summarized the results of the survey performed in recent 2 years. METHODS: A total of four proficiency surveys were performed, in which 54-59 laboratories participated. Each survey included 3 tests for HLA class I (serology and DNA) and class II (DNA) typing and 6 for HLA crossmatch test (3 cells x 2 sera). RESULTS: Overall concordance of serologic typing was 99.5% (436/438) for HLA-A, 95.7% (419/438) for HLA-B, and 94.8% (199/210) for HLA-C. The antigens assigned incorrectly by more than 5% of the participating laboratories were B54 (10.3%), B55 (10.3%), B27 (5.4%), Cw6 (22.9%), and C-blank (5.7%). Overall concordance rates of DNA typing were 99.7% (393/394) for HLA-A, 99.8% (415/416) for HLA-B, 100% (156/156) for HLA-C. Correct assignment of HLA-DRB1 and -DQB1 was reportred by 99.7% (98.1-100%) and 99.2% (88.9-100%) for generic and 99.2% and 98.1% (80-100%) for allelic level, respectively. Most laboratories (93.5-97.9%) were using sensitive methods of crossmatch such as T-long, T-AHG, and flowcytometry. The proportion of laboratories evaluated as unacceptable was on the average 3.1% of total laboratories. CONCLUSIONS: The rate of correct identification of HLA antigens was higher this time than in the previous survey in 1999. The rate of unacceptable crossmatch was also low enough to be satisfactory. It is thought that the proficiency survey has contributed to the high quality of HLA tests in the participating laboratories and should be continued to maintain the proficiency in Korea.
DNA Fingerprinting ; Histocompatibility Testing* ; HLA Antigens ; HLA-A Antigens ; HLA-B Antigens ; HLA-C Antigens ; HLA-DRB1 Chains ; Korea

To determine the possible participation of genetic factors in the pathogenesis of Takayasu's arteritis and to investigate an association between HLA antigens and the disease, we performed HLA typing in twenty two patients confirmed by clinical findings and aortography, and in fifty normal Koreans as controls. HLA-A, B,C and DR antigens were tested by standard microlymphocytotoxicity method with HLA antisera, which were supplied by UCLA Tissue Typing Laboratory. The results were as follows: 1) Frequent antigens of HLA-A locus in patients were A 2(54.5%), Aw 33(31.8%), Aw 24(27.2%) and A26(13.6%) in decreasing order, and Aw 33 was more frequent in patients than in normal controls(18.0%)(relative risk: 2.1). 2) Frequent antigens of HLA-B locus in patients were Bw61(31.8%), Bw44(31.8%), Bw62(22.7%) and Bw52(13.6%) in decreasing order, and Bw61 was more frequent in patients than in normal controls(10%)(relative risk : 4.2). 3) Frequent antigens of HLA-C locus in patients were Cw3(54.5%), Cw6(50.0%) and Cw1(22.7%) in decreasing order. 4) Frequent antigens of HLA-DR locus in patients were DR6Y(36.4%), DR2(31.8%), DRw9(27.2%), DR4(27.2%) and DR28(22.7%) in decreasinng order. In MT system MT 3 was more frequent in patients(54.5%) than in normal controls(31.6%)(relative risk : 2. 6). However, the difference of HLA antigen frequencies between patients and normal controls was not statistically significant, and the association of specific HLA antigens with Takayasu's arteritis requires further studies to be confirmed.
Aortography ; Histocompatibility Testing ; HLA Antigens* ; HLA-A Antigens ; HLA-B Antigens ; HLA-C Antigens ; HLA-DR Antigens ; Humans ; Immune Sera ; Takayasu Arteritis*

Objective: To analyze family-based haplotype frequencies of HLA-A, -B, -C, -DRB1 and -DQB1 genes and their clinical significance. Methods: The data of HLA genotyping in 3568 families undergoing related haploidentical transplantation between 2012 and 2017 at the First Affiliated Hospital of Soochow University were retrospectively evaluated. The HLA genotyping was performed by PCR amplification with sequence-based typing (PCR-SBT) and sequence-specific oligonucleotide probe (PCR-SSOP) methods. The family genetic analysis and haplotype frequencies were also investigated. Results: All the families were divided into 3 groups, including group1 of 1 422 entire families; group2 of 1 310 patients and either of their parents or one of their children; group3 of 836 patients and their HLA≥5/10 matched sibling donors. In the haplotypes with frequencies greater than 0.1% in group1+ group2, the frequency of A*11∶01-B*40∶01-C*03∶04-DRB1*11∶01-DQB1*03∶01, A*02∶07-B*51∶01-C*14∶02-DRB1*09:01-DQB1*03∶03 were significantly different between group1 and group2 (P=0.029, 0.033) . The frequency of A*11∶01-B*46∶01-C*01∶02∶01G-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group3 (P=0.035) . The frequency of A*02∶01-B*40∶01-C*07∶02-DRB1*09∶01-DQB1*03∶03 was significantly different between group1 and group2 (P=0.034) , or group1 and group3 (P=0.034) . The frequency of A*24∶02-B*13∶01-C*03∶04-DRB1*12∶02-DQB1*03:01 was significantly different between group2 and group3 (P=0.046) . Conclusion: In this study, we summarize the prevalence of haplotype frequencies in terms of HLA-A, -B, -C, -DRB1 and-DQB1. Based on the database of family haplotype analysis, patients and donor candidates are sorted with matched HLA genotype while unmatched HLA haplotype. Even in patients without entire family information, HLA haplotype analysis assists in choosing the optimal related or unrelated donors.
Alleles ; Child ; Gene Frequency ; HLA-A Antigens ; HLA-B Antigens ; HLA-C Antigens ; HLA-DQ beta-Chains ; HLA-DRB1 Chains ; Haplotypes ; Humans ; Retrospective Studies

BACKGROUND: To monitor the performance of histocompatibility testing laboratories, HLA proficiency survey in Korea has been conducted biannually since 1996. In this report, we summarized the results of the surveys performed in recent two years (2005-2006). METHODS: A total of four proficiency surveys were performed, in which 59-61 laboratories participated. Each survey included three tests for HLA class I (serology and DNA) and class II (DNA) typing and six tests for HLA crossmatch. RESULTS: The overall concordance of serologic typing was 98.9% (355/359) for HLA-A, 97.5% (350/ 359) for HLA-B, and 94.7% (337/356) for HLA-C. The antigens assigned correctly by less than 95% of the participating laboratories were A26 (93.8%), B38 (94.2%), Cw3/Cw10 (90.9%), Cw6 (94.4%), and Cw8 (74.3%). The overall concordance rates of DNA typing were 99.6% (533/535) for HLA-A, 99.8% (539/540) for HLA-B, and 100% (392/392) for HLA-C. Correct assignment of HLA-DRB1 and -DQB1 was reported by 99.2% (98.1-100%) and 96.7% (88.9-100%) for the generic level and 100% and 95.8% (75-100%) for the allelic level, respectively. On the average 3.8% (0-7.7%) of the total laboratories showed unacceptable results in the crossmatch tests. CONCLUSIONS: The rates of correct antigen identification and of unacceptable crossmatch were similar to those of previous surveys, which were considered satisfactory. The Korean proficiency survey program may have contributed to a high quality of HLA tests today and should be continued for further improvements of the tests tomorrow.
Alleles ; Data Collection ; HLA Antigens/*blood/genetics ; HLA-A Antigens/blood/genetics ; HLA-B Antigens/blood/genetics ; HLA-C Antigens/blood/genetics ; HLA-DQ Antigens/blood/genetics ; HLA-DR Antigens/blood/genetics ; Haplotypes ; Histocompatibility Testing/*standards ; Humans ; Korea ; Laboratories ; Quality Control

This study was aimed investigate the recombination event occurring between HLA-A and-A loci discovered from father's HLA haplotype chromosome in a family. Peripheral blood samples were collected from a family. HLA class I (-A, -B, and -Cw) and II (-DRB1 and -DQB1) alleles were amplified and typed by both low and high resolution PCR with sequence-specific primers (PCR-SSP) and sequence-based typing (SBT). The results showed that 2 haplotypes of the patient were A(*)3001-B(*)1302-DRB1(*)0701 and A(*)3001-B(*)5601-DRB1(*)1454 respectively, those of her father were A(*)3001-B(*)1302-DRB1*0701 and A(*)1101-B(*)5601-DRB1(*)1454. Family analysis demonstrated that the patient's A(*)3001-B(*)1302-DRB1(*)0701 came from her mother and A(*)1101-B(*)5601-DRB1(*)1454 came from her father, but the A of patient was A(*)3001 and B, DR were the same to her father. This showed that the chromosome exchange and recombination event of father's 2 haplotypes occurring between HLA-A and -A loci at meiosis. And recombinate haploid chromosome was completely inherited to his daughter 1. HLA typing and Paternity testing demonstrated that father was the natural father, and the recombination event occurring between HLA-A and -A loci of the daughter 1 with father's HLA haplotype chromosome. It is concluded that the HLA-A/A of father's HLA haplotype chromosome recombination event occurring between HLA-A an-A loci has been found in a family in China, which helps further study on the mechanisms of HLA recombination.
Adult ; Alleles ; Fathers ; Female ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DR Antigens ; genetics ; Haplotypes ; Histocompatibility Testing ; Humans ; Male ; Pedigree ; Recombination, Genetic

OBJECTIVETo analyze the polymorphism and haplotypes of HLA class I and II in Guangdong Han population and detect the HLA-A, B, Cw and DRB1 allele frequencies.

METHODSAn auto semi-quantitative PCR-sequence speacific oligonucleotide probe(PCR-SSOP) method was adopted in exploring the HLA-A, B, Cw and DRB1 genotypes of the samples from 160 bone marrow donors.

RESULTSTwelve HLA-A, 23 B, 11 Cw and 13 DRB1 alleles were obtained. A total of 9 HLA-A-B, 20 Cw-B, 7 A-Cw, and 8 A-DRB1, 9 B-DRB1, 10 Cw-DRB1 haplotypes were found.

CONCLUSIONHLA class I and II alleles in Guangdong Han population have plenty of polymorphisms. The haplotype distribution possesses territory characteristic.

Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; HLA Antigens ; genetics ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-DR Antigens ; genetics ; Haplotypes ; genetics ; Humans ; Linkage Disequilibrium ; Polymorphism, Genetic

BACKGROUND AND OBJECTIVES: This study was designed to investigate the influence of human leukocyte antigen (HLA) on genetic susceptibility to Meniere's disease and to evaluate the correlation between HLA genotypes and results of examination for various clinical factors of Meniere's disease. MATERIALS AND METHOD: The distribution of HLA class I was examined in 39 patients with MD and 199 healthy controls. For HLA-A and B, the serologic typing was performed according to a standard microlymphocytotoxicity technique. The HLA-C typing was performed by the ARMS-PCR method at DNA level. RESULTS: The frequencies of HLA-CwX0303 (RR=, p<0.02), and CwX0602 (RR=, p<0.03) were significantly increased in patients with Menieres disease, when compared to the controls. However, HLA-B44 (RR=, p<0.004) and CwX0102 (RR=, p<0.03) were significantly decreased in the patients compared to the controls. When an association between hearing level and the presence of HLA alleles was evaluated, the frequencies of HLA-B13 (RR=, p<0.004), CwX0303 (RR=5, p<0.02) and CwX0602 (RR=5, p<0.02) were significantly increased and the frequencies of B44 (RR=1, p*lt;0.02) and CwX0102 (RR=1, p<0.03) were significantly decreased in patients with the state of mild to profound hearing losses, compared to the controls. HLA-B13 showed a different distribution pattern between patients with and without hearing losses. CONCLUSION: These results suggest that some HLA alleles may be useful genetic markers in conferring the susceptibility to Meniere's disease and in implying a prognosis in Korean patients.
Alleles ; DNA ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Hearing ; Hearing Loss ; HLA-A Antigens ; HLA-B13 Antigen ; HLA-B44 Antigen ; HLA-C Antigens ; Humans ; Leukocytes ; Meniere Disease* ; Prognosis

BACKGROUND: Data on allele frequencies (AFs) and haplotype frequencies (HFs) of HLA-C and -DQB1 are limited in Koreans. We investigated AFs and HFs of HLA-A, -B, -C, -DRB1, and -DQB1 in Koreans by high-resolution sequence-based typing (SBT). METHODS: Hematopoietic stem cells were obtained from 613 healthy, unrelated donors to analyze HLA-A, -B, -C, -DRB1, and -DQB1 genotypes by using AlleleSEQR HLA-A, -B, -C, -DRB1, and -DQB1 SBT kits (Abbott Molecular, USA), respectively. Alleles belonging to HLA-C*07:01/07:06 group were further discriminated by using PCR-sequence specific primer analysis. AFs and HFs were calculated by direct counting and maximum likelihood method, respectively. RESULTS: In all, 24 HLA-A, 46 HLA-B, 24 HLA-C, 29 HLA-DRB1, and 15 HLA-DQB1 alleles were identified. AFs and HFs of HLA-A, -B, and -DRB1 were similar to those reported previously. For the HLA-C locus, C*01:02 was the most common allele, followed by C*03:03, C*03:04, C*14:02, C*03:02, and C*07:02 (AF > or =7%). AFs of C*07:01 and C*07:06 were 0.16% and 3.18%, respectively. For the HLA-DQB1 locus, DQB1*03:01 was the most common allele, followed by DQB1*03:03, *03:02, *06:01, *05:01, *04:01, and *06:02 (AF > or =7%). AFs of DQB1*02:01 and DQB1*02:02 were 2.12% and 6.69%, respectively. HFs of A*33:03-C*07:06 and C*07:06-B*44:03 were 3.09% and 3.10%, respectively, while those of DRB1*07:01-DQB1*02:02 and DRB1*03:01-DQB1*02:01 were 6.61% and 2.04%, respectively. CONCLUSIONS: This study reported AFs and HFs of HLA, including HLA-C and -DQB1, in Koreans by using high-resolution SBT. These data can be used to resolve ambiguous results of HLA typing for organ and hematopoietic stem cell transplantations.
Alleles* ; DNA Fingerprinting* ; Gene Frequency ; Genotype ; Haplotypes* ; Hematopoietic Stem Cells ; Histocompatibility Testing ; HLA Antigens ; HLA-A Antigens ; HLA-B Antigens ; HLA-C Antigens ; HLA-DRB1 Chains ; Humans ; Korea ; Leukocytes* ; Sequence Analysis ; Unrelated Donors

OBJECTIVETo analyze the allele frequencies and polymorphism of human leukocyte antigens (HLA) -A, B, Cw, DRB1 and DQB1 between donors-recipients on high-resolution typing; and to analyze the matching and mismatching proportion between donors and recipients.

METHODSHLA high-resolution types were determined by sequence based typing (SBT), sequence specific oligonucleotide probe (SSOP) and sequence specific primer (SSP) on 2540 unrelated Chinese Han individuals including 1168 recipients and 1372 donors, then statistical analyses were carried out.

RESULTSForty-four HLA-A alleles were detected, and among them the frequencies of A*1101, A*2402, A*0201, A*0207, A*3303, A*0206 and A*3001 exceeded 0.05, and accounted for 80.4%. Eighty-one HLA-B alleles were detected, and the frequencies of B*4001, B*4601, B*5801, B*1302 and B*5101 exceeded 0.05, and accounted for 43.0% of total. There were 44 HLA-Cw alleles, among them the frequencies of Cw*0702, Cw*0102, Cw*0304, Cw*0801, Cw*0602, Cw*0303, Cw*0302 and Cw*0401 exceeded 0.05, and were 80.3% of total. There were 61 HLA-DRB1 alleles, the frequencies of DRB1*0901, DRB1*1501, DRB1*1202, DRB1*0803, DRB1*0701, DRB1*0405, DRB1*0301 and DRB1*1101 exceeded 0.05, and were 70.1% of total. Finally, 22 HLA-DQB1 alleles were detected, the frequencies of DQB1*0301, DQB1*0303, DQB1*0601, DQB1*0602, DQB1*0202, DQB1*0302, DQB1*0401, DQB1*0502 and DQB1*0201 exceeded 0.05, and they were 87.4% of total. All the five loci were of heterozygote deficiency. The HLA-A, B and DRB1 loci conformed to Hardy-Weinberg equilibrium (HWE) (P > 0.05); but HLA-Cw and HLA-DQB1 loci did not (P < 0.05). Except several particular genotypes, all the five loci conformed to HWE. After comparing data between donors and recipients, only 22.4% of recipients found HLA matched donors (10/10); 24.6% of recipients found single HLA allele mismatched donors (9/10); 26.3% of recipients had two HLA alleles mismatched donors (8/10).

CONCLUSIONThe characteristics of allele frequencies and polymorphism of HLA-A, B, Cw, DRB1 and DQB1 on high-resolution typing in Chinese Han population is valuable for donor searching in unrelated hematopoietic stem cell transplantation, and it provides genetic basis for donor registry and usage of donor resource for Chinese Marrow Donor Program.

China ; ethnology ; Gene Frequency ; Genetics, Population ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-D Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Hematopoietic Stem Cell Transplantation ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Testing ; Humans ; Tissue Donors

BACKGROUND: The HLA system is known to be the most polymorphic gene cluster in the human genome. HLA allele and haplotype distribution varies widely among different ethnic groups. In this study, we examined the frequency of HLA class I alleles and haplotypes in 309 healthy Koreans. METHODS: We typed HLA-A, -B, and -C genes at the allelic level in 109 unrelated Korean individuals using a sequence-based typing. With the additional data of 200 healthy Koreans from dbMHC (http: //www.ncbi.nlm.nih.gov/mhc/), allele and haplotype frequencies were estimated by the maximum likelihood method. Serological typing results of 49 individuals were compared with the results highly resolved. RESULTS: A total of 22 HLA-A, 41 HLA-B, and 21 HLA-C alleles were found in this study. Alleles showing frequencies of more than 10% in each HLA locus were A*2402 (22.5%), A*0201 (15.7%), A*3303 (14.4%), A*1101 (11.0%), B*5101 (12.1%), Cw*0102 (18.8%), and Cw*1402 (10.2%). The most common A-B-C haplotypes at a frequency of more than 3% were A*3303-B*5801-Cw*0302 (5.2%), A*2402-B*5101-Cw*1402 (4.5%), A*1101-B*1501-Cw*0401 (4.3%), A*3303-B*4403-Cw*1403 (4.0%), A*3001-B*1302-Cw*0602 (3.7%), and A*0207-B*4601-Cw*0102 (3.2%). Misassignment of HLA-C antigen by serotyping was detected in 11 (22.4%) of 49 individuals. CONCLUSIONS: Our results will be useful as a basic data for studies on anthropology, disease association, and bone marrow transplantation. Misidentification of HLA-C by serotyping is so high that it would be desirable to perform a DNA typing especially in unrelated bone marrow transplantation.
Alleles* ; Anthropology ; Bone Marrow Transplantation ; DNA Fingerprinting ; Ethnic Groups ; Genome, Human ; Haplotypes* ; Histocompatibility Testing ; HLA-A Antigens* ; HLA-B Antigens ; HLA-C Antigens ; Humans ; Multigene Family ; Serotyping