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1.
Immunohematology ; 40(1): 28-33, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38739024

RESUMO

Since publication of the original Immunohematology review of the Kidd blood group system in 2015 (Hamilton JR. Kidd blood group system: a review. Immunohematology 2015;31:29-34), knowledge has mushroomed pertaining to gene structure, alleles causing variant and null phenotypes, clinical significance in renal transplant and hemolytic disease of the fetus and newborn, and physiologic functions of urea transporters in non-renal tissues. This review will detail much of this new information.


Assuntos
Sistema do Grupo Sanguíneo Kidd , Transplante de Rim , Humanos , Sistema do Grupo Sanguíneo Kidd/genética , Sistema do Grupo Sanguíneo Kidd/imunologia , Transportadores de Ureia , Eritroblastose Fetal/genética , Eritroblastose Fetal/imunologia , Eritroblastose Fetal/sangue , Recém-Nascido , Proteínas de Membrana Transportadoras/genética , Alelos , Antígenos de Grupos Sanguíneos/genética , Antígenos de Grupos Sanguíneos/imunologia
2.
A A Pract ; 18(4): e01769, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38557444

RESUMO

A 67-year-old man presented for urgent liver transplantation (LT). Screening revealed the rare combination of antiRhesus (D) and antiKidd Jk(a) antibodies, requiring antigen-negative red blood cells (RBC) for both phenotypes. This combination has not been reported during LT. Compatible RBCs were initially limited, requiring continued communication between the blood bank/blood supplier to obtain more, including frozen, units. Additional strategies included the use of cell salvage and intentional management of coagulopathy to limit bleeding and RBC requirement. This case highlights blood management during LT when D and Jk(a) antibodies may limit RBC supply and emphasizes the need for effective communication with the blood bank.


Assuntos
Sistema do Grupo Sanguíneo Kidd , Transplante de Fígado , Masculino , Humanos , Idoso , Sistema do Grupo Sanguíneo Kidd/genética
3.
Transfusion ; 63(8): 1441-1446, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37165957

RESUMO

BACKGROUND: The Kidd blood group gene SLC14A1 (JK) accounts for approximately 20 Kb from initiation codon to stop codon in the genome. In genomic DNA analysis using Sanger sequencing or short-read-based next generation sequencing, it is difficult to determine the cis or trans positions of single nucleotide variations (SNVs), which are occasionally more than 1 Kb away from each other. We aimed to determine the complete nucleotide sequence of a 20-Kb genomic DNA amplicon to characterize the JK allelic variants associated with Kidd antigen silencing in a blood donor. STUDY DESIGN AND METHODS: The Jk(a-b-) phenotype was identified in this donor by standard serological typing. A DNA sample obtained from whole blood was amplified by long-range PCR to obtain a 20-Kb fragment of the SLC14A1 gene, including the initiation and stop codons. The fragment was then analyzed by Sanger sequencing and single-molecule sequencing. Transfection and expression studies were performed in CHO cells using the expression vector construct of JK alleles. RESULTS: Sanger sequencing and single-molecule sequencing revealed that the donor was heterozygous with JK*01 having c.276G>A (rs763262711, p.Trp92Ter) and JK*02 having c.499A>G (rs2298719, p.Met167Val), c.588A>G (rs2298718, p.Pro196Pro), and c.743C>A (p.Ala248Asp). The two JK alleles identified have not been previously described. Transfection and expression studies indicated that the CHO cells transfected with JK*02 having c.743C>A did not express the Jkb and Jk3 antigens. CONCLUSIONS: We identified new JK silencing alleles and their critical SNVs by single-molecule sequencing and the findings were confirmed by transfection and expression studies.


Assuntos
DNA , Sistema do Grupo Sanguíneo Kidd , Animais , Cricetinae , Sistema do Grupo Sanguíneo Kidd/genética , Alelos , Cricetulus , Heterozigoto
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(5): 609-613, 2023 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-37102299

RESUMO

OBJECTIVE: To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region. METHODS: The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing. RESULTS: Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively. CONCLUSION: The splicing variant of c.342-1G>A in intron 4, missense variants of c.230G>A in exon 4, and c.647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c.230G>A variant was unreported previously.


Assuntos
Doadores de Sangue , Hemólise , Humanos , Fenótipo , Sistema do Grupo Sanguíneo Kidd/genética , Ureia , Biologia Molecular
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-981798

RESUMO

OBJECTIVE@#To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region.@*METHODS@#The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing.@*RESULTS@#Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively.@*CONCLUSION@#The splicing variant of c.342-1G>A in intron 4, missense variants of c.230G>A in exon 4, and c.647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c.230G>A variant was unreported previously.


Assuntos
Humanos , Fenótipo , Doadores de Sangue , Hemólise , Sistema do Grupo Sanguíneo Kidd/genética , Ureia , Biologia Molecular
6.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 30(1): 250-255, 2022 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-35123636

RESUMO

OBJECTIVE: To establish a based method flow cytometry to identify the antigen Jka in human red blood cells (RBCs) and verify its accuracy. METHODS: A total of 96 blood samples were enrolled in the study randomly from the voluntary blood donors in Shenzhen Blood Center. The RBCs were incubated with IgG anti-Jka primary antibody, and then labeled with the secondary antibody anti-IgG-Alexa Fluor 647. The fluorescence histograms of each sample were obtained by flow cytometry. Serological agglutination test was used to compare the accuracy of flow cytometry in the detecting of antigen Jka, while PCR-SSP and gene sequencing genotyping were used to verify the accuracy of flow cytometry in the detecting of the antigen in human RBCs. RESULTS: The results of flow cytometry for antigen Jka in human RBCs were consistent with those from serological tests. Samples that demonstrated higher serological agglutination intensity also showed higher fluorescence activity, which indicate more stronger of Jka antigen. The sensitivity of flow cytometry was higher than that of serological test; especially in distinguish Jka weak and negative samples. Flow cytometric results of all samples were consistent with the genotyping results, which confirmed the accuracy of flow cytometry. CONCLUSION: The study established a new flow cytometry-based method successfully for the identification of Jka antigen of Kidd blood group in human RBCs. The Kidd blood group antigen Jka of different intensities can be accurately distinguished by the technique.


Assuntos
Antígenos de Grupos Sanguíneos , Tipagem e Reações Cruzadas Sanguíneas , Eritrócitos , Citometria de Fluxo , Humanos , Imunoglobulina G , Sistema do Grupo Sanguíneo Kidd
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-928702

RESUMO

OBJECTIVE@#To establish a based method flow cytometry to identify the antigen Jka in human red blood cells (RBCs) and verify its accuracy.@*METHODS@#A total of 96 blood samples were enrolled in the study randomly from the voluntary blood donors in Shenzhen Blood Center. The RBCs were incubated with IgG anti-Jka primary antibody, and then labeled with the secondary antibody anti-IgG-Alexa Fluor 647. The fluorescence histograms of each sample were obtained by flow cytometry. Serological agglutination test was used to compare the accuracy of flow cytometry in the detecting of antigen Jka, while PCR-SSP and gene sequencing genotyping were used to verify the accuracy of flow cytometry in the detecting of the antigen in human RBCs.@*RESULTS@#The results of flow cytometry for antigen Jka in human RBCs were consistent with those from serological tests. Samples that demonstrated higher serological agglutination intensity also showed higher fluorescence activity, which indicate more stronger of Jka antigen. The sensitivity of flow cytometry was higher than that of serological test; especially in distinguish Jka weak and negative samples. Flow cytometric results of all samples were consistent with the genotyping results, which confirmed the accuracy of flow cytometry.@*CONCLUSION@#The study established a new flow cytometry-based method successfully for the identification of Jka antigen of Kidd blood group in human RBCs. The Kidd blood group antigen Jka of different intensities can be accurately distinguished by the technique.


Assuntos
Humanos , Antígenos de Grupos Sanguíneos , Tipagem e Reações Cruzadas Sanguíneas , Eritrócitos , Citometria de Fluxo , Imunoglobulina G , Sistema do Grupo Sanguíneo Kidd
8.
Immunohematology ; 37(3): 109-112, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34591379

RESUMO

Anti-Jk3 is a rare alloantibody to a high-prevalence antigen primarily seen in individuals of Polynesian descent and is associated with a handful of well-established variants of the SLC14A1 gene. We report a case of the Jknull phenotype, associated with formation of anti-Jk3, in a patient of non-Polynesian descent. This patient, a 51-year-old woman self-described as of Jamaican and Scottish ancestry, presented to our hospital for oncologic care. The patient's blood sample typed as blood group A, D+. All screening and panel reagent red blood cells showed reactivity, ranging from 2 to 4+; autocontrol and direct antiglobulin test were both negative. Antigen phenotyping revealed Jk(a-b-), leading to suspicion for anti-Jk3, which was subsequently confirmed by our immunohematology reference laboratory. Given her reported familial background, testing of the SLC14A1 gene was performed, revealing that the patient was heterozygous for the single nucleotide variant (SNV) at c.838G>A in exon 8 and therefore carries both JK*01 and JK*02 alleles that encode Jka and Jkb, respectively. However, the patient was found to be heterozygous for several additional SNVs: c.28G>A in exon 3; c.191G>A, c.226G>A, and c.303G>A in exon 4; and c.757T>C in exon 7. The patient's Jk(b-) phenotype can be explained by coinheritance of c.838A with c.191G>A, which defines null allele JK*02N.09. Coinheritance of SNVs c.28G>A and c.838G with rare SNV c.757C that is predicted to cause a non-conservative amino acid change (p.S253P) likely accounts for the complete serologic absence of Jka and the ability to form anti-Jk3 in this case. This finding would represent a new JK*01 null allele. This evaluation illustrates the importance of genetic analysis in identifying the factors preventing a high-prevalence antigen from being expressed, particularly when discovered outside of an expected racial or ethnic group.Anti-Jk3 is a rare alloantibody to a high-prevalence antigen primarily seen in individuals of Polynesian descent and is associated with a handful of well-established variants of the SLC14A1 gene. We report a case of the Jknull phenotype, associated with formation of anti-Jk3, in a patient of non-Polynesian descent. This patient, a 51-year-old woman self-described as of Jamaican and Scottish ancestry, presented to our hospital for oncologic care. The patient's blood sample typed as blood group A, D+. All screening and panel reagent red blood cells showed reactivity, ranging from 2 to 4+; autocontrol and direct antiglobulin test were both negative. Antigen phenotyping revealed Jk(a­b­), leading to suspicion for anti-Jk3, which was subsequently confirmed by our immunohematology reference laboratory. Given her reported familial background, testing of the SLC14A1 gene was performed, revealing that the patient was heterozygous for the single nucleotide variant (SNV) at c.838G>A in exon 8 and therefore carries both JK*01 and JK*02 alleles that encode Jka and Jkb, respectively. However, the patient was found to be heterozygous for several additional SNVs: c.28G>A in exon 3; c.191G>A, c.226G>A, and c.303G>A in exon 4; and c.757T>C in exon 7. The patient's Jk(b­) phenotype can be explained by coinheritance of c.838A with c.191G>A, which defines null allele JK*02N.09. Coinheritance of SNVs c.28G>A and c.838G with rare SNV c.757C that is predicted to cause a non-conservative amino acid change (p.S253P) likely accounts for the complete serologic absence of Jka and the ability to form anti-Jk3 in this case. This finding would represent a new JK*01 null allele. This evaluation illustrates the importance of genetic analysis in identifying the factors preventing a high-prevalence antigen from being expressed, particularly when discovered outside of an expected racial or ethnic group.


Assuntos
Antígenos de Grupos Sanguíneos , Sistema do Grupo Sanguíneo Kidd , Alelos , Antígenos de Grupos Sanguíneos/genética , Éxons , Feminino , Humanos , Sistema do Grupo Sanguíneo Kidd/genética , Pessoa de Meia-Idade , Nucleotídeos
9.
Immunohematology ; 37(2): 84-88, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34170639

RESUMO

The Kidd-null phenotype, Jk(a-b-), is rare, and a patient with this phenotype may develop anti-Jk3, a red blood cell (RBC) antibody reactive with a domain common to both Jka and Jkb. Like other antibodies to high-prevalence antigens, the presence of this antibody poses challenges in the immunohematologic evaluation of these patients. Thoughtful laboratory testing is necessary to resolve the antibody specificity and to reveal other underlying antibodies. Moreover, the rarity of the Kidd-null phenotype makes finding blood donors difficult for those who need transfusion and have developed anti-Jk3. This review describes methods used in identifying anti-Jk3 in four pregnant patients. Blood bank records were retrospectively reviewed to illustrate the common approach in anti-Jk3 identification. In all cases, pertinent blood bank history was gathered, and extended RBC phenotyping was performed, followed by adsorption studies and testing of selected RBCs. Underlying antibodies were found in two of the cases. This review also reiterates some common challenges encountered with Kidd antibody analysis and highlights the importance of patient ethnic ancestry and obtaining accurate patient transfusion history.The Kidd-null phenotype, Jk(a­b­), is rare, and a patient with this phenotype may develop anti-Jk3, a red blood cell (RBC) antibody reactive with a domain common to both Jka and Jkb. Like other antibodies to high-prevalence antigens, the presence of this antibody poses challenges in the immunohematologic evaluation of these patients. Thoughtful laboratory testing is necessary to resolve the antibody specificity and to reveal other underlying antibodies. Moreover, the rarity of the Kidd-null phenotype makes finding blood donors difficult for those who need transfusion and have developed anti-Jk3. This review describes methods used in identifying anti-Jk3 in four pregnant patients. Blood bank records were retrospectively reviewed to illustrate the common approach in anti-Jk3 identification. In all cases, pertinent blood bank history was gathered, and extended RBC phenotyping was performed, followed by adsorption studies and testing of selected RBCs. Underlying antibodies were found in two of the cases. This review also reiterates some common challenges encountered with Kidd antibody analysis and highlights the importance of patient ethnic ancestry and obtaining accurate patient transfusion history.


Assuntos
Transfusão de Sangue , Sistema do Grupo Sanguíneo Kidd , Especificidade de Anticorpos , Bancos de Sangue , Feminino , Humanos , Gravidez , Estudos Retrospectivos
10.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(3): 917-923, 2021 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-34105494

RESUMO

OBJECTIVE: To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province. METHODS: Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP). RESULTS: The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fya=0.9556,fyb=0.0444;the gene frequency of Diego blood group system: Dia=0.0678,Dib=0.9322;the gene frequency of Kidd blood group system:JKa=0.4533,JKb=0.5467;the gene frequency of Dombrock blood group system:DOa=0.1051,DOb=0.8949;the gene frequency of MNS blood group system:M=0.8131,N=0.1869,S=0.0327,s=0.9673,Mur+=0.5748,Mur-=0.4252;the gene frequency of Lutheran blood group system:AUa=0.8318,AUb=0.1682;the Kell, Colton, Scianna, Yt, Knops and Indian blood type systems showed a monomorph and the genotype was kk, coacoa, Sc1Sc1, YtaYta, KnaKna and InbInb. The observed and expected genotype values in twelve rare blood group systems of Li nationality in Hainan province were obeyed by the Hardy-Weinberg genitic rules. The difference between the observed and expectated values of the Kidd blood group system showed significant differences(χ2=17.1946,P=0.0002). CONCLUSION: The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.


Assuntos
Antígenos de Grupos Sanguíneos , Etnicidade , Antígenos de Grupos Sanguíneos/genética , Frequência do Gene , Genótipo , Humanos , Sistema do Grupo Sanguíneo Kidd , Polimorfismo Genético
12.
Blood Transfus ; 19(3): 237-243, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33539287

RESUMO

BACKGROUND: As of publication, a total of 41 null alleles have been acknowledged by the International Society of Blood Transfusion (ISBT) to cause the rare Jknull phenotype, but none have been discovered in Austria thus far. MATERIALS AND METHODS: Two patients with anti-Jk3 were serologically identified by a positive antibody screening and typed as Jk(a-b-). The initial genotyping using an SSP-PCR method for the common 838A/G polymorphism indicated a JK*02/02, or JK*01/02 genotype, respectively. To find the disruptive mutations, Sanger sequencing was performed and results were compared to the reference sequence. The patient's antibodies were characterized with a monocyte monolayer assay (MMA) for their potential clinical significance. RESULTS: Three novel null-mutations of the SLC14A1 gene were found in two patients. Patient 1 was homozygous for a 10bp deletion in exon 4 (c.157_166del on JK*02). Testing of her family members revealed Mendelian inheritance of the deletional allele. The other patient was compound heterozygous for two mutations: one allele carrying a single base deletion in exon 4 (c.267delC on JK*01) and the other a splice site mutation in intron 3 (c.152-1g>a on JK*02). The MMA results suggest high clinical significance of the anti-Jk3 in both patients. DISCUSSION: The detected mutations led to Jknull phenotypes and are the first description of JKnull alleles in the Austrian population.


Assuntos
Sistema do Grupo Sanguíneo Kidd/genética , Proteínas de Membrana Transportadoras/genética , Idoso de 80 Anos ou mais , Alelos , Feminino , Deleção de Genes , Genótipo , Humanos , Pessoa de Meia-Idade , Mutação , Polimorfismo Genético , Transportadores de Ureia
13.
Transfusion ; 61(2): 603-616, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33231305

RESUMO

BACKGROUND: Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen-matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. STUDY DESIGN AND METHODS: Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS-III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine (TOPMed) program. RESULTS: In SLC14A1, variants included four encoding a weak Jka phenotype and five null alleles (JKnull ). JKA*01N.09 was the most common JKnull . One possible JKnull mutation was novel: c.812G>T. In ACKR1, identified variants included two that predicted Fyx (FY*X) and one corresponding to the c.-67T>C GATA mutation. The c.-67T>C mutation was associated with FY*A (FY*01N.01) in four participants. FY*X was identified in 49 individuals. In KEL, identified variants included three null alleles (KEL*02N.17, KEL*02N.26, and KEL*02N.04) and one allele predicting Kmod phenotype, all in heterozygosity. CONCLUSIONS: We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.


Assuntos
Anemia Falciforme/genética , Sistema do Grupo Sanguíneo Duffy/genética , Variação Genética , Sistema do Grupo Sanguíneo de Kell/genética , Sistema do Grupo Sanguíneo Kidd/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Metaloendopeptidases/genética , Receptores de Superfície Celular/genética , Sequenciamento Completo do Genoma , Alelos , Anemia Falciforme/etnologia , Brasil/epidemiologia , Estudos de Coortes , Etnicidade/genética , Frequência do Gene , Estudos de Associação Genética , Humanos , Mutação INDEL , Anotação de Sequência Molecular , Mutação de Sentido Incorreto , National Heart, Lung, and Blood Institute (U.S.) , Polimorfismo de Nucleotídeo Único , Grupos Raciais/genética , Estados Unidos , Transportadores de Ureia
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-880169

RESUMO

OBJECTIVE@#To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province.@*METHODS@#Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP).@*RESULTS@#The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy@*CONCLUSION@#The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.


Assuntos
Humanos , Antígenos de Grupos Sanguíneos/genética , Etnicidade , Frequência do Gene , Genótipo , Sistema do Grupo Sanguíneo Kidd , Polimorfismo Genético
15.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(1): 300-306, 2020 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-32027293

RESUMO

OBJECTIVE: To study the single nucleotide polymorphisms (SNPs) in promoter region of the Jk gene and its allele frequency as well as distribution characteristics in the Chinese Han nationality population. METHODS: 127 blood samples containing 8 Jk(a-b-) and 119 samples (as control) taken randomly from voluntary blood donors of Chinese Han nationality persons in Shenzhen Blood Center were collected. The Kidd phenotypes were identified by using the serologic test and urea hemolysis test; the Jk promoter, exon 1-11 region and respective flanking area were amplified and sequenced, then the sequence information was analyzed. RESULTS: 8 Jk(a-b-) samples all carried JkB/JkB allele which belongs to 2 kind of Jknull genotypes commonly observed in Chinese Han nationality population. 6 IVS5-1g>a and 2 896G>A were found in 8 Jk(a-b-) samples. Besides, all Jk(a-b-) samples were homozygous for JkB/JkB allele. Three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene were found and sequenceds calculation of allele and genotype frequencies showed that the result accorded with Hardy-Weinberg equilibrium, indicating that the population in this study possesses representative characteristics of the Chinese Han nationality population. CONCLUSION: The polymorphism of the Jk gene occurs in promoter region. This study calculates the allele frequencies of three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene, and shows their distribution characteristics in distinct Kidd phenotypes. These findings provide the basic foundation for further population genetics research.


Assuntos
Polimorfismo de Nucleotídeo Único , Alelos , Antígenos de Grupos Sanguíneos , China , Frequência do Gene , Genótipo , Humanos , Sistema do Grupo Sanguíneo Kidd , Regiões Promotoras Genéticas
17.
Int J Immunogenet ; 46(3): 160-165, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30884143

RESUMO

We here report the first study of antigen and phenotype frequencies of Rh (C, c, E, e), M, Mia and Kidd antigens in north-east Thai blood donors. Blood transfusion services aim to ensure availability of adequate and safe blood to minimize the development of transfusion reactions. For pre-transfusion testing, the most important blood group systems are ABO and RhD. The transfusion of ABO-compatible otherwise unknown phenotype blood may result in alloimmunization, especially in multi-transfused patients. Extended red blood cell (RBC) phenotyping and selection of blood negative for specific antigens reduce post-transfusion complications and allow for effective blood transfusion regimens to be achieved. A total of 13,567 regular repeated, voluntary Thai blood donors were included for red-cell antigen typing of Rh (D, C, E, c, e). Samples from 12,768, 9,389 and 13,059 donors were typed for Kidd, M and Mia antigens, respectively. Amongst Rh antigens, e was the most common (96.80%) followed by C (95.50%), c (34.40%) and E (32.20%) with CCDee (60.00%) being the most common phenotype. For Kidd phenotypes, Jk(a+b+) was the most common (46.73%) and Jk(a-b-) was rare (0.07%). For the M and Mia antigen, M(+) was most frequently found (94.96%) and Mia (+) was found in 17.97% of individuals. Knowledge of red-cell antigen phenotype frequencies in a population is helpful for creating a phenotype database of blood donors which can provide antigen-negative compatible blood to patients with multiple alloantibodies. Moreover, provision of antigen-matched blood can prevent alloimmunization in multi-transfused patients.


Assuntos
Povo Asiático , Doadores de Sangue , Antígenos de Grupos Sanguíneos/genética , Sistema do Grupo Sanguíneo Kidd/genética , Sistema do Grupo Sanguíneo Rh-Hr/genética , Frequência do Gene , Humanos , Tailândia/etnologia
18.
Vox Sang ; 114(3): 268-274, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30820956

RESUMO

BACKGROUND AND OBJECTIVES: Kidd blood group system consists of two major antigens: Jka and Jkb . Both the antigens are absent in individuals typed as Jknull and may develop clinically significant anti-Jk3 antibody. Screening donors for provision of Jknull blood is an ongoing task for blood centres with Jknull blood units kept frozen for specific requirements. In 2016, we discovered a previously typed Jknull donor to be Jka weak positive. Therefore, a study was conducted for our donors to verify Jknull status and to reinforce our typing protocol. MATERIALS AND METHODS: In this experiment, donors previously typed and screened as Jknull were tested with four antisera of Jka and Jkb , and each with gel card for serology testing. Sequence analysis was performed for SLC14A1 gene for the detection of JKnull and weak alleles for genetic testing. RESULTS: Among the 30 samples, four were serologically identified as Jk(a+w ) and genotypically identified as heterozygous for the JK*01W.01 allele. The other 26 were confirmed to be Jknull with JK*02N.01 as the most frequent allele. None of JK*B weak alleles were detected, but three were identified as false positives in the tube method. Gel card gave great accuracy for Jkb detection, but failed to give consistent results for weak Jka . CONCLUSION: By combining the tube method and gel card method in serology, along with complementary genetic testing, the possibility of misinterpreting weak Jka expression was eliminated, and we were able to provide Jknull blood for safe clinical transfusion.


Assuntos
Genótipo , Sistema do Grupo Sanguíneo Kidd/genética , Sorogrupo , Alelos , Heterozigoto , Humanos , Masculino
20.
Transfus Clin Biol ; 26(1): 48-55, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29802018

RESUMO

The Kidd blood group system currently comprises two polymorphic and antithetical antigens, Jka and Jkb, and one high-prevalence antigen, Jk3. Jknull individuals do not express any of the Kidd antigens, and are at risk of developing an anti-Jk3 which is known to be dangerous and responsible for acute or delayed hemolytic transfusion reaction. We report a case of an immunized Jknull patient, who was scheduled to undergo a heart transplant. In order to organize his blood provision management, two conference calls were held between the clinical team and the different staff involved in this challenging blood supply. In light of the blood needs, the available resources, and the constraints, a mix of fresh and frozen units were used. As the supply from France was not sufficient, Finland and New Zealand provided the majority of the fresh units. We report here how this international supply chain was organized, including the difficulties that we encountered. Anticipation, communication and flexibility were essential in making this heart transplant possible without needing to transfuse incompatible units.


Assuntos
Transfusão de Sangue/métodos , Cooperação Internacional , Sistema do Grupo Sanguíneo Kidd , Cuidados Pré-Operatórios/métodos , França , Transplante de Coração , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Manejo de Espécimes/métodos
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