In order to study the genetic status of a rare chimeric family, some samples of A(3)B(3) family were identified by sequencing of ABO gene; flow-rSSO and PCR-SSP were used to detect loci of HLA-A, B, DRB1 genes, and multiplex amplifying with fluorescence-dye were performed for 16 short tandem repeat (STR) loci. The results indicated that two individuals from A(3)B(3) family contained more than two alleles at ABO gene, HLA-B, DRB1 and some STR loci. In conclusion, analysis of chimeric blood group by using genotyping techniques clearly demonstrating genetic status of this rare chimeric blood group promotes further elucidation of the existing state of specific genetic status.
ABO Blood-Group System ; genetics ; immunology ; Adult ; Chimerism ; Female ; Genotype ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Pedigree ; Polymorphism, Genetic ; Tandem Repeat Sequences ; genetics

OBJECTIVETo screen rare blood groups Fy(a-), s-, k-, Di(b-) and Js(b-) in an ethnic Zhuang population.

METHODSSequence-specific primers were designed based on single nucleotide polymorphism (SNP) sites of blood group antigens Fy(b) and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Di(b), k, Js(b)1910 and Js(b) 2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin.

RESULTSWe successfully made the multiplex PCR system I. We detected the rare blood group antigens using the two PCR system. There are five Fy(a-), three s(-), two Di(b-) in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II, 4490 samples were screened. Five Fy(a-), three s(-) and two Di(b-) samples were discovered.

CONCLUSIONMultiplex PCR is an effective methods, which can be used for high throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.

Blood Group Antigens ; genetics ; Duffy Blood-Group System ; genetics ; Genotype ; Humans ; Multiplex Polymerase Chain Reaction ; methods ; Receptors, Cell Surface ; genetics

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

BACKGROUNDMolecular testing is more precise compared to serology and has been widely used in genotyping blood group antigens. Single nucleotide polymorphisms (SNPs) of blood group antigens can be determined by the polymerase chain reaction with sequence specific priming (PCR-SSP) assay. Commercial high-throughput platforms can be expensive and are not approved in China. The genotype frequencies of Kidd, Kell, Duffy, Scianna, and RhCE blood group antigens in Jiangsu province were unknown. The aim of this study is sought to detect the genotype frequencies of Kidd, Kell, Duffy, Scianna, and RhCE antigens in Jiangsu Chinese Han using molecular methods with laboratory developed tests.

METHODSDNA was extracted from EDTA-anticoagulated blood samples of 146 voluntary blood donors collected randomly within one month. Standard serologic assay for red blood cell antigens were also performed except the Scianna blood group antigens. PCR-SSP was designed to work under one PCR program to identify the following SNPs: JK1/JK2, KEL1/KEL2, FYA/FYB, SC1/SC2, C/c and E/e.

RESULTSSerologic antigen results were identical to the phenotypes that were predicted from genotyping results. The allele frequencies for Jk*01 and Jk*02 were 0.51 and 0.49, respectively; for Fy*A and Fy*B 0.94 and 0.06; for RHCE*C and RHCE*c 0.68 and 0.32; and for RHCE*E and RHCE*e 0.28 and 0.72. Among 146 blood donors, all were KEL*02/KEL*02 and SC*01/SC*01, indicating allele frequencies for KEL*02 and SC*01 close to 1.00.

CONCLUSIONSThe use of PCR-SSP working under the same condition for testing multiple antigens at the same time is practical. This approach can be effective and cost-efficient for small-scale laboratories and in developing counties. These molecular tests can be also used for identifying rare blood types.

Blood Group Antigens ; genetics ; Butyrophilins ; China ; ethnology ; Duffy Blood-Group System ; genetics ; Gene Frequency ; Genotype ; Humans ; Kell Blood-Group System ; genetics ; Kidd Blood-Group System ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Rh-Hr Blood-Group System ; genetics

Blood Group Antigens ; genetics ; Duffy Blood-Group System ; genetics ; Humans ; Kell Blood-Group System ; genetics ; Kidd Blood-Group System ; genetics ; Polymorphism, Single Nucleotide ; Rh-Hr Blood-Group System ; genetics

BACKGROUND: Knowledge about the frequency of red blood cell-antigen phenotypes in a population can be helpful in the creation of a donor data bank for the preparation of indigenous cell panels and for providing antigen-negative compatible blood to patients with multiple alloantibodies. METHODS: ABO and RhD blood grouping was performed on 9,280 continuous voluntary and replacement donors. For other rare blood groups, 508 ACD blood samples were obtained from the donors at the Blood Bank of the Department of Transfusion Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Blood group antigens were determined by tube method using anti-sera (Bio-Rad, USA), and the phenotype frequencies were expressed as percentages. RESULTS: Group B (37.39%) was the most common, followed by group O (31.85%). R1R1 and rr were the most common phenotypes amongst Rh positive and Rh negative groups, respectively. A rare phenotype R2Rz was found in one donor. For Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b+) were the most common phenotypes (46.06% and 48.03%, respectively). The most common phenotypes for MNSs, Lu, and Kell blood groups were M+N+, S-s+, Lu (a-b+), and K-k+, respectively. A very rare case of Fy (a-b-) and Jk (a-b-) was found in a single donor. CONCLUSION: This study is the first small step to create a rare donor data bank and to prepare indigenous cell panels to provide compatible blood to all multi-transfused alloimmunized patients.
Blood Banks ; Blood Donors ; Blood Group Antigens ; Blood Grouping and Crossmatching ; Duffy Blood-Group System ; Humans ; India ; Phenotype ; Tertiary Healthcare ; Tissue Donors

BACKGROUND: Knowledge about the frequency of red blood cell-antigen phenotypes in a population can be helpful in the creation of a donor data bank for the preparation of indigenous cell panels and for providing antigen-negative compatible blood to patients with multiple alloantibodies. METHODS: ABO and RhD blood grouping was performed on 9,280 continuous voluntary and replacement donors. For other rare blood groups, 508 ACD blood samples were obtained from the donors at the Blood Bank of the Department of Transfusion Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Blood group antigens were determined by tube method using anti-sera (Bio-Rad, USA), and the phenotype frequencies were expressed as percentages. RESULTS: Group B (37.39%) was the most common, followed by group O (31.85%). R1R1 and rr were the most common phenotypes amongst Rh positive and Rh negative groups, respectively. A rare phenotype R2Rz was found in one donor. For Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b+) were the most common phenotypes (46.06% and 48.03%, respectively). The most common phenotypes for MNSs, Lu, and Kell blood groups were M+N+, S-s+, Lu (a-b+), and K-k+, respectively. A very rare case of Fy (a-b-) and Jk (a-b-) was found in a single donor. CONCLUSION: This study is the first small step to create a rare donor data bank and to prepare indigenous cell panels to provide compatible blood to all multi-transfused alloimmunized patients.
Blood Banks ; Blood Donors ; Blood Group Antigens ; Blood Grouping and Crossmatching ; Duffy Blood-Group System ; Humans ; India ; Phenotype ; Tertiary Healthcare ; Tissue Donors

Human Leukocyte Antigen (HLA) typing of large groups of patients with various autoimmune diseases has demonstrated that some HLA alleles occur at higher frequencies in specific diseases than in the general population. Chronic urticaria has been shown to have an autoimmune basis by a previous study which found an association between chronic urticaria and specific HLA groups. We investigated the HLA subtypes of Turkish chronic urticaria patients. For this purpose 42 Turkish patients with chronic urticaria and 115 healthy controls were typed for HLA-DR and DQ by PCR-SSP (Polymerase Chain Reaction Sequence Specific Primers) low resolution DNA technique. We found an increased frequency of DR4 (42.9%, p=0.01) in chronic urticaria patients in comparison with that in healthy controls. This study supports the hypothesis that HLA alleles may be involved in the pathogenesis of chronic urticaria and that they appear to be directly involved in the initiation of the immune response.
Chronic Disease ; HLA-DQ Antigens/genetics ; HLA-DR Antigens/genetics ; HLA-DR4 Antigen/genetics ; Histocompatibility Antigens Class II/*genetics ; *Histocompatibility Testing ; Human ; Urticaria/*genetics/*immunology

HLA-DR antigen and gene frequencies were studied in 150 unrelated Koreans in Seoul. HLA-DR4 was the most common DR specificity encountered and HLA-DR1 and -DR3 occurred with the lowest frequencies. The frequency of HLA-DR blank allele was 27.1%. HLA-B:DR haplotypes involving positive delta values differing significantly from zero were DR1:B7, DR2:Bw22, DR3:B17, DR5:Bw35, DRw6:B17, DR7:B12, DR7:B13, and DRw8:Bw16. The supertypic groups (MT1, MT2 and MT3) differ somewhat in frequencies from Other populations. These findings suggested that the Korean population, while having many similarities in HLA-DR antigen frequencies with those of neighboring Orientals, has not only different features in the distribution of HLA-DR antigens but also has unique HLA-B:DR haplotypes.
Gene Frequency ; HLA Antigens/analysis* ; HLA-B Antigens ; HLA-DR Antigens ; Haploidy ; Histocompatibility Antigens Class II/analysis* ; Human ; Korea ; Mongoloid Race*

Currently, the cell surface antigen A,B,O(H) is thought to be an important indicator of malignant potential in bladder carcinoma. Herein, we performed SRCA test in 54 bladder carcinoma for detection of such an isoantigen, comparing the SRCA result to its tumor grade and stage. Also, various significances including the clinical application of SRCA test for the management of the bladder carcinoma were discussed. The results were as follows: 1. Of 54 patients, 34 patients were low stage(0-A) and low grade(1-2). 2. There is a significant correlation between tumor grade and SRCA test: Of 38 patients with low grade. 19 patients were SRCA positive, but of 16 patients with high grade. all were SRCA negative. 3. There is a significant correlation between tumor stage and SRCA test: Of 36 patients with low stage, 18 patients were SRCA positive, but of 18 patients with high stage(above B1), only one patient was SRCA positive. 4. There is a high possibility of false-negative results in detecting O(H) isoantigen: Of 36 patients with low stage, 6 patients were blood group 0 who were all SRCA negative. but 30 patients with other blood groups showed variable SRCA results. 5. There is a considerable correlation between tumor recurrence and SRCA result: Of 20 patients who were followed more than one year after initial TUR, 8 patients were SRCA positive, of these 4 patients were recurred, but 9 patients of 12 patients with SRCA negative were recurred.
Antigens, Surface* ; Blood Group Antigens ; Humans ; Isoantigens ; Recurrence ; Urinary Bladder*