OBJECTIVE: To detect loss of heterozygosity (LOH) at human leukocyte antigen (HLA) loci in a Chinese patient with leukemia after haploidentical hematopoietic stem cell transplantation. METHODS: HLA genotyping was carried out on peripheral blood, hair follicle and buccal swab samples derived from the patient after the transplantation as well as peripheral blood samples from his parents by using PCR-sequence specific oligonucleotide probe method and PCR-sequence based typing method. Short tandem repeat (STR) loci were detected by using a 23 site STR assay kit and a self-developed 6 STR loci assay for the HLA regions. RESULTS: After the transplantation, the HLA genotype of the peripheral blood sample of the patient was identical to his father. The patient was HLA-A*02:01,24:02, C*03:03,03:04, B*13:01,15:01, DRB1*08:03,12:02, DQB1*03:01,06:01 for his hair follicle specimen. However, homozygosity of the HLA loci was found in his buccal swab sample. Only the HLA-A*24:02-C*03:03-B*15:01-DRB1*08:03-DQB1*06:01 haplotype from his father's was present, while the HLA-A*02:01-C*03:04-B*13:01-DRB1*12:02-DQB1*03:01 haplotype from his mother was lost. After the transplantation, the alleles of the 23 STR sites in the patient's peripheral blood sample were consistent to his father, with no allelic loss detected in his buccal swab sample. However, at least 4 STR loci in the HLA region were lost in his buccal swab sample. CONCLUSION LOH at the HLA loci has been detected in the buccal swab sample of a patient with leukemia who received haploidentical hematopoietic stem cell transplantation.
HLA Antigens/genetics* ; HLA-A Antigens/genetics* ; Histocompatibility Antigens Class I/genetics* ; Humans ; Leukemia/genetics* ; Loss of Heterozygosity

The study of the HLA system was primarily initiated to understand the basis for the histocompatibility between recipients and tissue donors. HLA typing methods are being continuously improved and biochemical and molecular typing, in particular, are expected to provide precise typing of the HLA system. Conventional HLA typing methods can define antigen specificities, while biochemical and molecular methods will provide direct allele typing that is based on the actual sequence polymorphism. The precise tissue typing will definitely improve the outcome of transplantation. Structural studies have revealed the highly polymorphic nature of the HLA system and given insight to understanding the molecular basis of the HLA polymorphism. One big immunological puzzle remaining to be answered is how T-cell receptor molecules recognize peptide antigen in conjunction with the HLA molecule. The crystallization of the T-cell receptor molecule, an experiment currently underway, will eventually reveal the structural basis of the trimolecular interaction.
Animals ; Genes, MHC Class I ; Genes, MHC Class II ; Histocompatibility Antigens Class I/analysis/chemistry/*physiology ; Histocompatibility Antigens Class II/analysis/chemistry/*physiology ; Human ; Polymorphism (Genetics) ; Protein Conformation

Hemochromatosis/genetics* ; Histocompatibility Antigens Class I/genetics* ; Humans ; Mutation ; Receptors, Transferrin/genetics*

OBJECTIVE: To explore the relationship between the level of soluble HLA-E (sHLA-E) molecules in plasma and gene polymorphism and leukemia in Shenzhen of China. METHODS: Enzyme-linked immunosorbent assay was used to detect sHLA-E level in plasma of 103 leukemia patients and 113 healthy blood donors. PCR-SBT was used to identify the HLA-E genotype of 73 leukemia patients and 76 healthy blood donors. RESULTS: The level of plasma sHLA-E of 103 leukemia patients was significantly higher than that of 113 healthy blood donors (P<0.001); And the level of plasma sHLA-E in 77 myeloid leukemia patients was also significantly higher (P<0.001). The percentage of patients with plasma sHLA-E concentration of 0-199 ng/ml in leukemia and myeloid leukemia patients was 37.86% and 32.47%, respectively, which was significantly lower than 53.98% of healthy donors, the difference was statistically significant (P<0.05, P<0.01); While, when the plasma sHLA-E concentration was more than 400 ng/ml, the percentage was 33.01% and 36.36%, respectively, which was significantly higher than 13.28% of healthy donors, the difference was also statistically significant (P=0.001, P<0.001). There was no significant difference in the level of plasma sHLA-E among different HLA-E genotypes (P>0.05), whether healthy blood donors or leukemia patients. CONCLUSION The level of plasma sHLA-E in patients with leukemia (especially myeloid leukemia) is significantly higher than that of healthy blood donors, but different HLA-E genotypes do not affect the level of plasma sHLA-E. A cut-off value for the concentration of plasma sHLA-E (recommended risk value >400 ng/ml) can be set to assess the risk of certain pre-leukemia patients.
Genotype ; Histocompatibility Antigens Class I/genetics* ; Humans ; Leukemia/genetics* ; Polymorphism, Genetic

Killer cell immunoglobulin-like receptors (KIRs) are members of the immunoglobulin superfamily expressed on natural killer (NK) cells and a subset of T cells. Given the receptor-ligand relationship between certain KIR and human leukocyte antigen (HLA) classⅠmolecules, the KIRs are involved in the regulation of NK cell activation through conveying activating or inhibitory signals, which plays an important role in immunities involved in transplantation, tumor, infection as well as autoimmune diseases. This paper has provided a review for the research on KIR gene polymorphisms and summarized the characteristics of the sequence-based typing method for KIR genes.
HLA Antigens ; genetics ; Histocompatibility Antigens Class I ; genetics ; Humans ; Killer Cells, Natural ; metabolism ; Polymorphism, Genetic ; genetics ; Receptors, KIR ; genetics

OBJECTIVETo investigate the genetic polymorphism of microsatellite in the exon 5 of MICA gene and the intron 1 of MICB gene in Guangdong Han population.

METHODSOne hundred and six samples of Guangdong Han population were genotyped by polymerase chain reaction and fluorescent technique (6-FAM). Gene frequency, power of discrimination, expected heterozygosity, polymorphism information content and probability of paternity exclusion were calculated.

RESULTSThe genotype distributions of MICA and MICB microsatellite met Hardy-Weinberg equilibrium. MICA A5 was the most common allele (0.2877), whereas A4 was the least popular one (0.1321). The genotype distribution frequencies of A5-5.1 (14.15%) and A5-5 (10.38%) are high. MICB CA14 was the most common allele (0.3255), and CA19,28 was the least popular one (0.0047). CA27 was not observed. The genotype distribution frequency of CA14-CA14(14.15%) is high.

CONCLUSIONThe microsatellite of the exon 5 of MICA gene and the intron 1 of MICB gene could be used as the genetic markers of Chinese population in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.

China ; ethnology ; Histocompatibility Antigens Class I ; genetics ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic

Hematopoietic Stem Cell Transplantation ; Histocompatibility Antigens Class I ; genetics ; Humans ; Polymorphism, Genetic ; Transplantation, Homologous

Behcet's disease is a chronic multi-systemic disease of unknown origin that includes mucocutaneous, ocular, cardiac, vascular, renal, gastrointestinal, neurologic and cutaneous involvement. The disease is spread throughout the world, but it is most prevalent in the eastern Mediterranean region-along the Silk Road-, and in Japan, China, and Korea. Recently, we treated a Mongolian patient who had complete-type Behcet's disease. As far as we know, this case is the first report of a Mongolian with Behcet's disease in the English literature. HLA typing in this patient revealed A2, A24; B51, B35; Cw4, Cw7; DR9, DR11. Study of the MICA genetype showed *5, *6 positive. Our data provided adequate evidence, from an epidemiological aspect, to support the belief that Behcet's disease is most prevalent along the old Silk Road.
Adult ; Alleles ; Behcet Syndrome/*genetics/immunology ; Genotype ; HLA-B Antigens/*genetics ; Histocompatibility Antigens Class I/*genetics ; Human ; Male

HFE gene is a major histocompatibility complex class I-like gene, which was identified as a candidate gene for hemochromatosis in 1996. The proposed role for HFE is its part in the regulation of the interaction of the transferrin receptor with transferrin. Hemochromatosis, the common autosomal recessive disease of iron overload, affects at least 1 in 300 Caucasians. The identification of the C282Y mutation in the HFE gene has led to population screening studies. Much of this work has also included the analysis of a second mutation, H63D, which appears to have a low penetrability. HFE protein was recently found to coprecipitate with the transferrin receptor and to affect the reaction between transferrin and the transferrin receptor. Functional data suggest that the mutation C282Y abolishes the association of the HFE protein with beta 2-microglobulin (beta 2M), making the complex unable to reach the cell surface. Clearly, if the mutation protein is unable to reach the cell surface, this regulatory feature is missing. The role of a second mutation in the HFE gene, H63D, is less clear. Current data suggest that this mutation protein can associate with beta 2-microglobulin and does reach the cell surface and that the defect lies in a failure to modify the affinity of the transferrin receptor for transferrin. This does not explain the low degree of penetrability associated with this mutation.
Gene Frequency ; HLA Antigens ; genetics ; Hemochromatosis ; genetics ; Hemochromatosis Protein ; Histocompatibility Antigens Class I ; genetics ; Humans ; Membrane Proteins ; Mutation

OBJECTIVEThe purpose of this study was to examine the expression of human major histocompatibility complex-I at different degrees of dysplasia leukoplakia, and to investigate local immune status and discuss their associations with oral leukoplakia.

METHODSThe monoclonal antibody of MHC class I antigen was employed in this study. There were 55 oral leukoplakias, 31 primary oral squamous cell carcinomas and 28 histologically normal oral epithelia were detected for the presence of the MHC class I molecule by using immunohistochemistry method.

RESULTSThe MHC class I antigen expression of the severe dysplasia and oral squamous cell carcinoma was significantly lower than that of the normal epithelia (P < 0.05). But their expression did not show statistically difference between the normal epithelia and other groups of oral leukoplakia (P > 0.05).

CONCLUSIONThe expression levels of the MHC class I antigen is reduced in oral leukoplakia, particularly in severe dysplasia oral leukoplakia, it is relevant to the degree of dysplasia.

Antibodies, Monoclonal ; Carcinoma, Squamous Cell ; genetics ; Genes, MHC Class I ; Histocompatibility Antigens Class I ; genetics ; Humans ; Immunohistochemistry ; Leukoplakia, Oral ; genetics ; Mouth Neoplasms ; genetics