BACKGROUND : Patients with haptoglobin deficiency associated IgG antibodies, who experienced severe nonhemolytic transfusion reactions (NHTRs), have been identified in Japan. Haptoglobin therefore might be a risk factor for NHTRs. STUDY DESIGN AND METHODS A total of 4138 cases voluntarily reported NHTRs Japan, including 367 immediate‐onset anaphylactic NHTRs, were examined to identify deficiency. Serum and IgE antibodies determined haptoglobin‐deficient patients elucidate the mechanism...

Background The ABO blood group is important in transfusion. Recently, an erythroid cell–specific regulatory element has been identified the first intron of using luciferase reporter assays with K 562 cells. activity was dependent upon GATA ‐1 binding. In addition, partial deletion I ntron 1 including observed genomic DNAs obtained from 111 B m and AB individuals, except for one, whereas never found among 1005 individuals common phenotypes. Study Design Methods this study, further...

The occurrence of D- is approximately 0.5% in Japanese, but DEL apparently individuals relatively common compared with that Caucasian populations. On the basis molecular genetics, we examined Japanese blood donors.A standard serological technique was used for RhD typing, and selected 3526 samples. Genomic DNA obtained from whole RHD analysis by polymerase chain reaction (PCR) sequencing. Multiplex PCR to detect all exons use PCR-sequence-specific primer (PCR-SSP) deletion (RHD*01N.01)...

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Background and Objectives An erythroid cell‐specific regulatory element, referred to as the +5·8‐kb site, had been identified in first intron of human ABO blood group gene. Subsequent studies revealed that either a 5·8‐kb deletion including site or disruption GATA factor binding motif at was present all B m AB individuals examined. We investigated molecular mechanism A phenotype, which is analogous phenotype. Materials Methods Genomic DNA s were prepared from peripheral two individuals,...

Background and objectives An erythroid cell‐specific regulatory element, referred to as the +5.8‐kb site, has been identified in first intron of human ABO blood group gene. Subsequent studies have revealed involvement deletion or mutation at site phenotypes A m , B AB . We investigated molecular mechanisms involved 3 phenotypes. Materials methods Genomic DNA s were prepared from peripheral seven individuals twelve individuals, nucleotide sequences using PCR sequencing. Promoter assays...

The molecular basis of the weak D phenotype has been investigated for many years, and more than 80 different alleles producing phenotypes have identified. Most a single missense mutation in exons corresponding to transmembrane domain RhD polypeptide. We report here RHD with nucleotide mutations Japanese accounting expression antigen.Seventy-five blood samples were detected from 763 408 donors by standard serological methods. Forty-five 75 available gene analysis PCR sequencing using genomic...

BACKGROUND Anti‐KANNO, a broadly reactive RBC alloantibody, is found among some Japanese pregnant women, but the genetic basis of corresponding antigen remains unclear. STUDY DESIGN AND METHODS We integrated statistical approach to identify coding gene for KANNO by conducting genome‐wide association study (GWAS) on four KANNO‐negative individuals and 415 healthy Japanese. also applied whole‐exome sequencing them performed replication confirm identified genome variation using independent 14...

We developed a sequence-specific primer PCR (SSP-PCR) for detection of 5.8-kb deletion (B(m) 5.8) involving an erythroid cell-specific regulatory element in intron 1 the ABO blood group gene. Using this SSP-PCR, we performed genetic analysis 382 individuals with Bm or ABm. The was found 380 individuals, and disruption GATA motif one individual. Furthermore, novel 3.0-kb 3.0) demonstrated remaining Comparisons single-nucleotide polymorphisms microsatellites between B(m) 5.8 3.0 suggested that...

The Am and Bm phenotypes are characterized by weak expression of the A or B antigens, respectively, red blood cells with a normal saliva secretors. Deletion regulatory element in first intron ABO gene disruption GATA motif were found to be responsible. In this study, we identified novel mutation within (G>C substitution at position c.28 + 5830) allele that might diminish transcription activity causing generation phenotype.

The Kidd blood group system consists of three common phenotypes: Jk(a+b−), Jk(a−b+) and Jk(a+b+), one rare phenotype, Jk(a−b−). Jka/Jkb polymorphism is associated with c.838G>A (p.Asp280Asn) in exon 9 the JK (SLC14A1) gene, corresponding alleles are named JK*01 JK*02. phenotype Jk(a−b−) was first found a Filipina Spanish Chinese ancestry, to date, several null responsible for have been reported. We report seven novel alleles, 4 background 3 JK*02 background, identified from Japanese.

Alloimmunization against human platelet alloantigens (HPA) is known to be involved in disorders such as neonatal alloimmune thrombocytopenic purpura, post‐transfusion and refractoriness transfusion therapy. HPA typing essential diagnosis management of patients. Therefore a reliable speedy method necessary for typing. We have successfully applied new DNA method, PCR‐preferential homoduplex formation assay (PHFA) the HPA‐1, ‐2, ‐3, ‐4, ‐5 ‐6 systems. This based on strand competition during...

Recently, the involvement of mutation and deletion transcription regulatory elements in Bm , Am A3 B3 phenotypes has been reported. In present study, we carried out genetic analysis individuals with using peptide nucleic acid-clamping PCR to exclude amplification O alleles. Two single-point mutations, -76G>C -68G>T, were found ABO promoter on A-allele three B allele a individual, respectively. Transient transfection luciferase reporter plasmids carrying same mutations into K562 cells...

We identified 46 different RHD alleles from 226 Japanese individuals with weak D phenotype, 26 of which had been previously described and 20 that were novel. Among these individuals, the c.960G>A, c.845G>A ( *15 ) or c.1013T>C *01W.24 mutations most prevalent relative occurrences 36·7%, 15·9% 9·7%, respectively. These findings demonstrate prevalence common in population significantly differs Caucasian populations.

Background The high‐prevalence antigen J r a is carried on the ATP ‐binding cassette transporter ABCG2 . gene consists of 16 exons and its translation start codon located second exon. Although occurrence r(a−) phenotype rare, several null alleles have been reported. We report new allele having large deletion in this study. Study Design Methods status was determined by standard serologic tests genomic DNA isolated from whole blood. Exons 1 to 5′‐untranslated region were analyzed polymerase...

Abstract Background and Objectives The RHAG blood group system contains five antigens: Duclos (RHAG001), Ol a (RHAG002), DSLK (RHAG003), Kg (RHAG005) SHER (RHAG006). Individuals who are DSLK‐negative Kg‐positive have the same allele RHAG*01.–3 , with single‐nucleotide variation (rs144305805), c.490A>C (p.Lys164Gln), in exon 3 of gene. We aimed to confirm whether antithetical antigens. Materials Methods Blood samples original proband anti‐DSLK, her son another individual were examined....

Discrepancy of results ABO groups between red cell testing and serum is a significant issue in transfusion medicine1. One its reported causes blood chimerism, which shows mixed-field agglutination. However, agglutination can be seen various situations, including ABO-incompatible stem transplantation, recent transfusions type-O cells non-O recipient, rare subgroups such as B3 chimera. Several molecular approaches have been employed to identify namely genotyping, human leucocyte antigen typing...

Abstract Background The Kidd blood group gene SLC14A1 ( JK ) accounts for approximately 20 Kb from initiation codon to stop in the genome. In genomic DNA analysis using Sanger sequencing or short‐read‐based next generation sequencing, it is difficult determine cis trans positions of single nucleotide variations (SNVs), which are occasionally more than 1 away each other. We aimed complete sequence a 20‐Kb amplicon characterize allelic variants associated with antigen silencing donor. Study...

BACKGROUND Antibody screening in pretransfusion tests is necessary to avoid critical complications of blood transfusion. Although red cells (RBCs) expressing relevant alloantigen(s) have been used for serologic antibody screening, little attention has given the use cell lines, which group antigen gene(s) are transduced, as reagent RBCs screening. STUDY DESIGN AND METHODS The an erythroid progenitor line was studied. expression antigens analyzed by genotyping and flow cytometry. Serologic...

Abstract Curcuma caesia (black turmeric), a perennial herb that has distinguishable bluish-black rhizome with bitter and pungent smell is widely used extracted for its medicinal values. C. by hydro-distillation method produce essential oil hydrosol. The of known high value, but the chemical constituent hydrosol yet to be studied. Hence, this study will investigate caesia’s comprehend benefits usages produced further research in pharmaceutical natural products industries. Besides, carried out...

Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) method has been established to discriminate genotypes for the human platelet antigen (HPA) systems HPA-1, HPA-2, HPA-3, HPA-4, and HPA-5. Gene fragments which contain polymorphic sequences corresponding HPA-5 were PCR-amplified with specific primers. The amplified DNA was denatured subjected non-denaturing polyacrylamide gel electrophoresis followed by silver staining. results obtained PCR-SSCP in good agreement...

背景: ハプトグロビン (Hp) 欠損は, 国内における輸血アナフィラキシー発生の一因と考えられている.目的: サンドイッチELISAを用いた簡便なHp欠損の検出法を検討する.方法: 被検患者血清コントロール血清, スタンダードHpを, ウサギ抗ヒトHpポリクローナル抗体を固相化したマイクロプレートに添加して, 10分間反応させ, プレートを洗浄後, 結合したHpをHRP標識抗ヒトHpヤギ血清およびTMB基質で検出した. 被検血清とスタンダードHpの示す吸光度を比較して患者がHp欠損か否かを判定した.結果: 上記の方法で, 血清中に存在する3μg/dL以上の濃度のHpを検出できた. また, ピークレートネフェロメトリー法で血清Hp含量が5mg/dL以下と測定された患者の中から, 先天性のHp欠損者を検出することができた. 判定は肉眼でも可能であった.結論: 本法は, 操作が簡便で, 検出感度が高い. 本法を用いれば先天性Hp欠損者と二次的に血中Hp含量が減少した患者の鑑別が可能である. 頻回輸血を必要とする患者の輸血時のアナフィラキシー発生の予防や,...

MNS is one of the highly polymorphic blood groups comprising many antigens generated by genomic recombination among GYPA, GYPB, and GYPE genes as well single-nucleotide changes. We report a patient with red cell (RBC) antibody against an unknown low-frequency antigen, tentatively named SUMI, investigated its carrier molecule causal gene.Standard serologic tests, including enzyme were performed. Monoclonal anti-SUMI-producing cells (HIRO-305) established transformation hybridization methods...