OBJECTIVE: To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique. METHODS: Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Second Affiliated Hospital of Zhengzhou University (Ethics No. 2022223). RESULTS: The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure (dN/dS < 1, Tajima's D, Fu and Li's D* and F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups (P < 0.05). CONCLUSION This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.
Female ; Humans ; Male ; Asian People/ethnology* ; China/ethnology* ; Duffy Blood-Group System/genetics* ; Ethnicity/genetics* ; Gene Frequency ; Genetic Variation ; Haplotypes ; Polymorphism, Single Nucleotide

Patients with sickle cell anemia are chronically transfused. Therefore, it is important to prevent the alloimmunization of RBC antigens. The authors identified a high frequency antigen-negative blood group in patients with sickle cell anemia. As the number of foreigners residing in Korea is increasing, it is necessary to know what to consider when transfusing blood to sickle cell anemia patients. Patients with sickle cell anemia should be informed of the exact blood group type using extended RBC typing to confirm the ABO, Rh, Kell, and Duffy blood types at diagnosis or before the first blood transfusion. Extended matched blood transfusion can reduce the risk of alloimmunization of RBC antigens.
Anemia ; Anemia, Sickle Cell* ; Blood Transfusion ; Diagnosis ; Duffy Blood-Group System ; Emigrants and Immigrants ; Erythrocytes* ; Humans ; Korea

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: Duffy (FY) blood group genotyping is important in transfusion medicine because Duffy alloantibodies are associated with delayed hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. In this study, FY allele frequencies in Thai blood donors were determined by in-house PCR with sequence-specific primers (PCR-SSP), and the probability of obtaining compatible blood for alloimmunized patients was assessed. METHODS: Five hundred blood samples from Thai blood donors of the National Blood Centre, Thai Red Cross Society, were included. Only 200 samples were tested with anti-Fy(a) and anti-Fy(b) using the gel technique. All 500 samples and four samples from a Guinea family with the Fy(a-b-) phenotype were genotyped by using PCR-SSP. Additionally, the probability of obtaining antigen-negative red blood cells (RBCs) for alloimmunized patients was calculated according to the estimated FY allele frequencies. RESULTS: The FY phenotyping and genotyping results were in 100% concordance. The allele frequencies of FY*A and FY*B in 500 central Thais were 0.962 (962/1,000) and 0.038 (38/1,000), respectively. Although the Fy(a-b-) phenotype was not observed in this study, FY*B(ES)/FY*B(ES) was identified by PCR-SSP in the Guinea family and was confirmed by DNA sequencing. CONCLUSIONS: Our results confirm the high frequency of the FY*A allele in the Thai population, similar to that of Asian populations. At least 500 Thai blood donors are needed to obtain two units of antigen-negative RBCs for the Fy(a-b+) phenotype.
Adult ; Alleles ; Asian Continental Ancestry Group/genetics ; Base Sequence ; Blood Donors ; DNA/chemistry/genetics/metabolism ; Duffy Blood-Group System/*genetics/immunology ; Female ; Gene Frequency ; Genotype ; Humans ; Isoantibodies/blood/immunology ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; Receptors, Cell Surface/genetics/*immunology ; Sequence Analysis, DNA ; Thailand ; Young Adult

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

The Duffy antigen was discovered in 1950, in a multiply transfused hemophiliac. Important progress has since been made in understanding the Duffy blood group system and its complexity. The Duffy blood group antigen (gp-Fy) is present primarily in erythrocytes, and also in endothelial cells of capillary and postcapillary venules, Purkinje cells of cerebellum, kidney, and pulmonary alveoli. The gp-Fy serves not only as a blood group antigen, but also as a receptor for chemokines, and as a receptor for Plasmodium vivax malaria parasites. The Duffy antigen is encoded by the DARC gene, its approved name is Duffy blood group chemokine receptor. Investigation of the DARC gene can help us in understanding the relationship of infectious disease to race or population. In addition, the allelic frequency of DARC varies according to the geographic area, which appears to reflect the history that mankind had adapted to environments and diseases, emigrating. As a result, further study of Duffy antigens can provide us with an integral and sound understanding of the human race.
Blood Group Antigens ; Capillaries ; Cerebellum ; Chemokines ; Communicable Diseases ; Continental Population Groups ; Duffy Blood-Group System ; Endothelial Cells ; Erythrocytes ; Humans ; Kidney ; Malaria, Vivax ; Parasites ; Plasmodium vivax ; Pulmonary Alveoli ; Purkinje Cells ; Venules

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

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

This study was aimed to establish the real-time multiple-PCR with melting curve analysis for Duffy blood group Fy-a/b genotyping. According to the sequence of mRNA coding for β-actin and Fy-a/b, the primers of β-actin and Fy-a/b were synthesized. The real-time multiple-PCR with melting curve analysis for Fy-a/b genotyping was established. The Fy-a/b genotyping of 198 blood donors in Chinese Chengdu area has been investigated by melting curve analysis and PCR-SSP. The results showed that the results of Fy-a/b genotype by melting curve analysis were consistent with PCR-SSP. In all of 198 donors in Chinese Chengdu, 178 were Fy(a) (+) (89.9%), 19 were Fy(a) (+) Fy(b) (+) (9.6%), and 1 was Fy(b) (+) (0.5%). The gene frequency of Fy(a) was 0.947, while that of Fy(b) was 0.053. It is concluded that the genotyping method of Duffy blood group with melting curve analysis is established, which can be used as a high-throughput screening tool for Duffy blood group genotyping; and the Fy(a) genotype is the major of Duffy blood group of donors in Chinese Chengdu area.
Alleles ; Blood Grouping and Crossmatching ; methods ; Duffy Blood-Group System ; genetics ; Freezing ; Gene Frequency ; Genotype ; Humans ; Real-Time Polymerase Chain Reaction