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

<b>OBJECTIVEb>To 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.

<b>METHODSb>HLA 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.

<b>RESULTSb>Forty-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).

<b>CONCLUSIONb>The 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

<b>OBJECTIVEb>To study the genetic polymorphisms of human leukocyte antigen (HLA)- A, B, C, DRB1, DQA1, DQB1, DPA1and DPB1among ethnic Hans from southern China.

<b>METHODSb>481 randomly selected individuals were genotyped using a polymerase chain reaction (PCR) sequence-based typing (SBT) method for the above genes. Their allele frequencies were determined by direct counting.

<b>RESULTSb>In total, 28 HLA-A, 57 HLA-B, 28 HLA-C, 40 HLA-DRB1, 18 HLA-DQA1, 17 HLA-DQB1, 6 HLA-DPA1and 21 HLA-DPB1alleles were identified. Among these, common alleles (with allelic frequencies > 0.05) included A*1101, A*2402, A*0207, A*3303, A*0201, B*40:01, B*46:01, B*58:01, B*13:01, B*15:02, C*01:02, C*07:02, C*03:04, C*03:02, C*08:01, C*03:03, C*04:01, DRB1*09:01, DRB1*15:01, DRB1*12:02, DRB1*08:03, DRB1*03:01, DRB1*04:05, DRB1*11:01, DQA1*01:02, DQA1*03:02, DQA1*03:03, DQA1*06:01, DQA1*01:03, DQA1*05:05, DQA1*01:04, DQA1*03:01, DQA1*05:01, DQB1*03:01, DQB1*03:03, DQB1*06:01, DQB1*05:02, DQB1*03:02, DQB1*02:01, DQB1*03:02, DQB1*06:02, DPA1*02:02, DPA1*01:03, DPA1*02:01, DPB1*05:01, DPB1*02:01, DPB1*13:01, DPB1*04:01and DPB1*02:02.For each of the locus, the overall frequencies of common alleles were 75.57%, 52.81%, 78.28%, 62.16%, 86.70%, 77.23%, 95.32% and 81.59%, respectively.

<b>CONCLUSIONb>The allelic frequencies of the 8 selected HLA loci among ethnic Hans from southern China may served as a reference for anthropology, legal medicine, transplantation and disease association studies.

Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genotype ; Genotyping Techniques ; methods ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-DP Antigens ; genetics ; HLA-DQ alpha-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Antigens Class II ; genetics ; Humans ; Linkage Disequilibrium ; Polymerase Chain Reaction ; Polymorphism, Genetic

In order to evaluate association of particular HLA typing with certain uveitis in Korean population, HLA antigens were analyzed in 114 uneitis patients(acute anterior uveitis: 32 cases, Behcet`s disease: 25 cases, intermediate uveitis: 19 cases, Vogt-Koyanagi-Harada (V-K-H) syndrome: 10 cases, retinal vasculitis: 12 cases, Eale`s disease: 3 cases, posterior uveitis: 9 cases, pan.uveitis: 4 cases). The stronger association between acute anterior uveitis and HLA-B27 was statistically significant, and this result was similar to reports in other ethnic groups. Also, the association between V-K-H syndrome and HLA-DR4 showed same results. But the high frequency of HLA-DR7 in the patients with V-K-H syndrome was unque in patients of Korean popjlation and statistically significant. The association between HLA-A2 and posterior uveitis was high in patients of Korean population and statistically significant. Behcet`s disease was stronger association with HLA-B51 but not statistically significant and much weaker association than reports in Japanese group. Although many similarities of associations between particular uveitis and HLA typing were detected as compared with other ethnic groups, distinctive HLA associations were demonstrated in Korean population. Additional cases and long-term follow-up are required to confirm the association with HLA typing and the relationship with prognosis including clinical and laboratory variabilities.
Asian Continental Ancestry Group ; Ethnic Groups ; Follow-Up Studies ; Histocompatibility Testing ; HLA Antigens ; HLA-A2 Antigen ; HLA-B27 Antigen ; HLA-B51 Antigen ; HLA-DR4 Antigen ; HLA-DR7 Antigen ; Humans ; Prognosis ; Retinal Vasculitis ; Uveitis* ; Uveitis, Anterior ; Uveitis, Intermediate ; Uveitis, Posterior

<b>OBJECTIVEb>To investigate the association between the exons 2 to 4 of the MICA gene and ankylosing spondylitis (AS).

<b>METHODSb>By PCR-SSOP, DNA samples from 56 AS patients and 112 random healthy individuals, as normal control were genotyped to analyse the polymorphism in exons 2, 3, 4 of the MICA alleles.

<b>RESULTSb>MICA*008 was dominant in MICA allele,accounted for 32.14% and 30.36% in AS patients and normal controls respectively. The frequency of MICA*007 was significantly increased in AS patients, when compared with normal controls (chi-square=10.18, P<0.05, RR=2.50). No difference was found in the other MICA alleles. The haplotype analysis revealed that there were the strong linkage disequilibrium between MICA and HLA-B of AS patients, and normal controls. There was a difference in MICA*007-B27 between two groups (chi-square=18.46, P<0.05, RR=7.47). Both HLA-B27 and MICA*007 were strongly associated with AS. Stratified analysis showed that HLA-B27 was significantly relative to AS,while it was not found between MICA*007 and AS.

<b>CONCLUSIONb>The increased frequency of MICA alleles may be due to its strong linkage disequilibrium with HLA-B27.

Alleles ; Exons ; genetics ; Gene Frequency ; Genotype ; HLA-B Antigens ; genetics ; HLA-B27 Antigen ; genetics ; Histocompatibility Antigens Class I ; genetics ; Humans ; Linkage Disequilibrium ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Spondylitis, Ankylosing ; genetics

This study was aimed to investigate the corelation between the HLA (human leukocyte antigen) genes and susceptibility of leukeamia. 605 patients with leukeamia including 189 ALL, 184 AML and 232 CML were selected for this investigation. 900 normal umbilical cord blood samples from umbilical cord blood bank were used as control population compared to the leukemia patients. HLA-A, B, C typing was done by polymerase chain reaction with sequence-specific primers (SSP-PCR). The results showed that frequencies of HLA-A*26, A*68, B*56 in ALL patients were higher (4.46%, 2.65%, 1.17%), as compared with controls (2.31%, 0.95%, 0.22%), HLA-CW*06 in ALL patients was lower (3.64%), as compared with control (11.65%). In AML patients HLA-A*01 (9.41%), B*37 (3.60%) was higher and A*33 (3.60%), B*51 (4.73%) were lower than those in controls (3.57%, 1.75% and 7.64%, 7.93%). HLA-A*32, B*27, B*44, B*54, B*55 (2.18%, 3.96%, 5.06%, 4.63%, 2.84%) in CML patients were higher than those in control (0.84%, 2.04%, 3.07%, 2.44%, 1.29%). These results suggested that positive association may exist between certain HLA-class I genes and leukemias. These preliminary data may be useful for further study on the mechanisms of leukemia pathogenesis.
Adolescent ; Adult ; Alleles ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genotype ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; Histocompatibility Antigens Class I ; blood ; genetics ; Humans ; Leukemia ; blood ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic

BACKGROUND: HLA-B27 typing has long been performed by the microlymphocytotoxicity method(MCT) but the flow cytometry method(FCM) was introduced several years ago. False positive results due to the HLA-B7 cross reactive groups(CREG) were the main drawback of the serologic method. The authors performed polymerase chain reaction-sequence specific primer(PCR-SSP) test for HLA-B27 to compare the results with serologic methods. METHODS: PCR-SSP test for HLA-B27 was performed on four hundred forty one samples. Three hundred twenty eight samples were tested by MCT and one hundred thirteen samples by FCM. PCR-SSP for HLA-B27 subtyping or Amplification Refractory Mutation System-PCR(ARMS-PCR) for HLA-B typing was performed on twenty four discrepant samples. RESULTS: The concordance rate between MCT and PCR-SSP was 92.9%(305/328) and the concordance rate between FCM and PCR-SSP was 99.1%(112/113). Twenty four(5.4%) out of four hundred forty one samples showed discrepancy between serologic methods and PCR-SSP method. Fourteen out of one hundred MCT positive samples and only one out of forty FCM positive samples showed negative by PCR-SSP. Nine samples showed PCR-SSP positive and MCT negative. CONCLUSIONS: The false positive rate of MCT was quite high and there were some false positive and negative results by PCR-SSP, too. From the above findings, we suggest that FCM is the most accurate method for HLA-B27 typing in those laboratory equipped with flow cytometry.
Flow Cytometry* ; HLA-B Antigens ; HLA-B27 Antigen* ; HLA-B7 Antigen

<b>OBJECTIVEb>The aim of this study was to investigate the mRNA expression levels of human leukocyte antigen Class I at different progressive stages of human oral squamous cell carcinomas.

<b>METHODSb>The expression of mRNA of human leukocyte antigen--B/C was detected in 23 primary tumors, 10 metastatic focuses and 11 histological normal oral epithelia using in situ hybridization method with a digoxigenin--labeled DNA probe. The probe was human leukocyte antigen--B/C locus specific.

<b>RESULTSb>The hybridization signals were present in the cytoplasm of either normal epithelia or tumor cells. The integrated optical density values of the hybridization signals were detected with the aid of an image analysis system. The results showed that the average integrated optical density values of the primary tumors were statistically lower than the normal oral epithelia (P < 0.05), but there was no significant difference between metastatic tumors and the primary tumors or the normal epithelia. The integrated optical density values measured in the metastatic tumors also did not show statistically differences compared with the primary tumors of the same patients.

<b>CONCLUSIONb>Impaired regulation of human leukocyte antigen--B/C transcription could occur but might not be directly associated with metastasis of oral squamous cell carcinomas.

Carcinoma, Squamous Cell ; genetics ; immunology ; HLA-B Antigens ; biosynthesis ; genetics ; HLA-C Antigens ; biosynthesis ; genetics ; Histocompatibility Antigens Class I ; biosynthesis ; genetics ; Humans ; In Situ Hybridization ; Mouth Neoplasms ; genetics ; immunology ; RNA, Messenger ; biosynthesis ; genetics ; Transcription, Genetic

Behcet's disease (BD) has been known to be strongly associated with the human leukocyte antigen (HLA) B51. This B51 association has been confirmed in many different ethnic groups between the Middle East and Japan, and it has been proposed that BD is prevalent in those ethnic groups along the old Silk Route. The hypothesis could be made that B51 molecules are primarily involved in BD development through specific antigen presentation. However, polymorphic analyses of the TNFB gene and Tau-a microsatellite between the HLA-B and TNF genes indicate that the pathogenic gene of BD is not the HLA-B51 gene itself but another gene located around the HLA-B gene. HLA-C genotyping by the PCR-SSP method also suggests that the BD pathogenic gene is not the HLA-C gene itself but other gene located near the HLA-B gene. Recently we sequenced a single contig of 236,822 bp from the MICA gene (58.2 kb centromeric of HLA-B) to 90.8 kb telomeric of HLA-C and identified 8 novel genes designated NOB1-8 (NOB: new organization associated with HLA-B). During the course of the genomic sequence analysis we clarified the genetic structure of the MICA (MHC class I chain-related gene A) gene and found a triplet repeat microsatellite polymorphism of (GCT/AGC)n in the transmebrane (TM) region. Furthermore, the microsatellite allele consisting of 6 repetitions of GCT/AGC (MICA A6 allele) was present at a significantly higher frequency in the BD patient group than in the control group and a significant fraction of B51-negative patients were positive for this MICA A6 allele. These results suggest the possibility of a primary association of BD with MICA rather than HLA-B.
Animal ; Behcet's Syndrome/genetics* ; Genotype ; HLA-B Antigens/genetics* ; HLA-C Antigens/genetics* ; Histocompatibility Antigens Class I/genetics* ; Human ; Mice ; Mice, Transgenic ; Microsatellite Repeats ; Polymerase Chain Reaction ; Polymorphism (Genetics)

OBJECTIVE: To investigate the recombinations within the human leukocyte antigen (HLA) region in two families. METHODS: Genomic DNA was extracted from the peripheral blood specimens of the different family members. <i>HLA-A, -B, -C, -DRB1, -DQB1i> and -<i>DPB1i> loci were genotyped using polymerase chain reaction-sequence specific oligonucleotide probing technique (PCR-SSO) and next-generation sequencing technique. HLA haplotype was determined by genetic analysis of the pedigree. RESULTS: The haplotypes of <i>HLA-A*11:01~C*03:04~B*13:01~DRB1*12:02~DQB1*03:01~DPB1*05:01:01Gi> and <i>HLA-A*03:01~C*04:01~B*35:03~DRB1*12:01~DQB1*03:01~DPB1*04:01:01Gi> in the family 1 were recombined between <i>HLA-Bi> and <i>HLA-DRB1i> loci, which formed the haplotype of <i>HLA-A*11:01~C*03:04~B*13:01~DRB1* 12:01~DQB1*03:01~DPB1*04:01:01G.i> The haplotypes of <i>HLA-A *02:06~C*03:03~B*35:01~DRB1*08:02~DQB1*04:02~ DPB1*13:01:01Gi> and <i>HLA-A *11:01~C*07:02~B*38:02~DRB1*15:02~DQB1*05:01~DPB1*05:01:01Gi> in the family 2 were recombined between <i>HLA-DQB1i> and <i>HLA-DPB1i> loci, which formed the haplotype of <i>HLA-A*02:06~C*03:03~B*35:01~ DRB1*08:02~DQB1*04:02~DPB1*05:01:01Gi>. CONCLUSION The gene recombination events between <i>HLA-Bi> and -<i>DRB1, HLA-DQB1i> and -<i>DPB1i> loci were found respectively in two Chinese Han families.
Humans ; Gene Frequency ; HLA-DQ beta-Chains/genetics* ; HLA-B Antigens/genetics* ; Histocompatibility Antigens Class I/genetics* ; Haplotypes ; HLA-A Antigens/genetics* ; HLA-DRB1 Chains/genetics* ; Recombination, Genetic ; Alleles