新疆柯尔克孜族献血者7个红细胞血型系统抗原基因多态性分析

目的了解新疆柯尔克孜族人各种(类)红细胞血型系统抗原基因的多态性分布情况。方法采用PCRSSP方法对113名新疆柯尔克孜族无血缘关系的健康献血者Kell、Duffy、Diego、Kidd、Dombrock、Yt和Colton 7个血型系统做基因分型,并做基因多态性分析。结果本组新疆柯尔克孜族无偿献血者人群的Kell、Duffy、Diego、Kidd、Dombrock、Yt和Colton7个血型系统抗原基因频率分别为K=0.008 8(2/226)、k=0.991 2(224/226),Jsa=1.000 0(226/226)、Jsb=0.000 0(0/226),Fya=0.725 7(164/226)、Fyb=0.274 3(62/226),Dia=0.057 5(13/226)、Dib=0.942 5(213/226),Jka=0.615 0(139/226)、Jkb=0.385 0(87/226),Doa=0.238 9(54/226)、Dob=0.761 1(172/226),Yta=0.946 9(214/226)、Ytb=0.053 1(12/226),Coa=1.000 0(226/226)、Cob=0.000 0(0/226),均符合Hardy-Weinberg遗传定律(P0.05),Kell和Colton基因分布与汉族、维吾尔族、回族、藏族、满族人群相似。结论新疆柯尔克孜族人Duffy、Diego、Kidd、Dombrock和Yt血型系统基因频率具有独特的分布特点,Kell和Colton血型系统与国内许多民族相似;Colton血型系统基因呈单态性分布。     

乌鲁木齐地区哈萨克族献血人群红细胞稀有血型系统抗原基因的多态性研究

目的研究乌鲁木齐地区哈萨克族献血人群5个红细胞稀有血型系统13个抗原基因多态性分布,提高配合性输注的能力。方法应用PCR-SSP方法对128份乌鲁木齐地区哈萨克族无血缘关系献血者开展Kell(Kel)、Diego(Di)、Dombrock(Do)、Kidd(Jk)、Duffy(Fy)5种红细胞稀有血型系统基因分型。结果乌鲁木齐地区128名健康哈萨克族红细胞Kell、Duffy、Diego、Kidd、Dombroek血型系统各抗原基因频率分别为:k=0.988 3、K=0.011 7、Jsb=1.000 0、Jsa=0,Fya=0.668 0、Fyb=0.332 0、Fy=0,Dia=0.031 3、Dib=0.968 7,Jka=0.484 4、Jkb=0.515 6,Doa=0.273 4、Dob=0.726 6;各血型系统抗原不合率分别是2.29,34.52,5.88,37.48,31.84。经Hardy-Weinberg吻合度检验,Kell、Diego、Dombrock系统稀有血型系统基因型分布的观测值与期望值基本符合,但Duffy和Kidd系统差别有统计学意义(P0.05)。结论乌鲁木齐地区哈萨克族献血人群5个红细胞稀有血型系统基因分型中Duffy和Kidd的2个血型系统基因型分布的观测值与期望值相差较大,这为乌鲁木齐地区哈萨克族安全输血提供了有力保障。     

成都地区献血人群Kell等9个血型系统抗原基因分型研究

目的了解成都地区献血人群Kell等血型系统抗原基因的多态性分布。方法采用PCR-SSP方法对332名成都地区汉族献血者的Kell(KEL)、MNS(NMS)、Diego(DI)、Scianna(SC)、Dombrock(DO)、Colton(CO)、Duffy(FY)、Lutheran(LU)、Kidd(JK)等9个血型系统的22个抗原基因分型。结果成都地区汉族献血者Kell、Kidd、Duffy等血型系统抗原基因频率:KEL为K=0.000 0、k=1.000 0;MNS为m=0.575 2、n=0.424 6、S=0.0376、s=0.962 2,单体型MS=0.028 3、Ms=0.546 9、NS=0.009 3、Ns=0.415 3;DI为Dia=0.040 7、Dib=0.959 3;SC为Sc1=1.000 0、Sc2=0.000 0;DO为Doa=0.066 3、Dob=0.933 7;CO为Coa=1.000 0、Cob=0.000 0;FY为Fya=0.951 8、Fyb=0.048 2;LU为Lua=0.000 0、Lub=1.000 0,Aua=0.893 1、Aub=0.106 9;JK为Jka=0.442 8、Jkb=0.557 2。结论成都地区汉族献血人群中MNS、DI、DO、FY、LU和JK基因频率分布具有多态性,KEL、SC和CO基因频率呈单态性分布。     

岳阳地区无偿献血者RhCE、MNS、Kidd、Duffy血型系统调查及稀有血型库的建立

目的探讨岳阳地区献血者RhCcEe、MNS(M/N/S/s)、Duffy(Fya/Fyb)、Kidd(Jka/Jkb)4个红细胞血型系统的基因频率和多态性特点,建立稀有血型库。方法采用聚合酶链式反应-序列特异性引物法(PCR-SSP)方法对303例献血者血样4个红细胞血型系统进行基因分型。结果岳阳汉族人群RhCE血型系统基因频率为C=0.6865,c=0.3135,E=0.2492,e=0.7508;MNS血型基因频率为M=0.4983,N=0.5017,S=0.0478,s=0.9521;Duffy血型的基因频率为Fya=0.9472,Fyb=0.0528;Kidd血型基因频率为Jka=0.4802,Jkb=0.5198。发现1例罕见RhCCEE型献血者和1例Fyb/Fyb稀有血型。结论岳阳汉族人群RhCE、MNS、Kidd、Duffy血型系统基因分布具有多态性,有必要建立稀有血型库,为临床安全、有效输血提供保障。     

江西地区汉族人群Diego和Dombrock血型基因频率调查

目的调查200名江西地区汉族随机献血者的Diego(Di)和Dombrock(Do)2个稀有血型系统,取得相应基因频率资料,为临床输血提供相应资料。方法采集200名江西地区汉族随机献血者,应用聚合酶链反应-序列特异性引物(PCR-SSP)法检测Di和Do 2个血型系统。结果 200名随机献血者中Di血型查出2种基因表现型,分别为Dia-b+196例、Dia+b+4例,Dia+b-及Dia-b-未检出;Dia基因频率为0.01,Dib基因频率为0.99。Do血型查出3种基因表现型,分别为Doa+b-2例,Doa+b+16例,Doa-b+182例;Doa基因频率为0.05,Dob基因频率为0.95。结论本地区Di血型系统的表现型多数为Dia-b+、少数为Dia+b+,Dia+b-及Dia-b-未见;Do血型系统的表现型多数为Doa-b+、少数为Doa+b+和Doa+b-。     

Duffy、Diego等4种血型系统基因频率及多态性研究

目的了解岳阳汉族人群Kidd(Jk^a/Jk^b)、Duffy(Fy^a/Fy^b)、Diego(Di^a/Di^b)、Dombrock(Do^a/Do^b)4种红细胞血型系统的基因频率和多态性特点,为建立该地区稀有血型库提供数据支持。方法采用聚合酶链式反应-序列特异性引物法(PCR-SSP法)对303名岳阳汉族RhD(+)固定献血者进行4种血型系统基因分型。结果岳阳汉族人群Duffy血型的基因频率为Fy^a=0.9472,Fy^b=0.0528;Dombrock血型基因频率为Do^a=0.0842,Do^b=0.9158;Diego血型基因频率为Di^a=0.0247,Di^b=0.9752;Kidd血型基因频率为Jk^a=0.4802,Jk^b=0.5198。结论岳阳汉族人群Duffy、Diego、Kidd和Dombrock血型系统基因呈多态性分布。     

徐州汉族人ABO血型及HAB分泌型基因分型研究

目的　研究徐州汉族人群ABO血型及HAB分泌型基因多态性分布特征并用于解决临床输血中血型血清学鉴定难题。方法　用快速盐析法提取外周血标本中的DNA ,用PCR SSP扩增ABO血型、HAB分泌型等位基因。结果　 1 0 4名健康、无血源关系的徐州汉族人ABO血型基因频率分别为A1:0 .1 53 8,A2 :0 .0 962 ,B :0 .2 4 52 ,O1:0 .50 4 8,O2 :未检测到 ( χ2 =6.73 2 3 ,P >0 .2 5,符合Hardy Weinberg公式 ) ;HAB分泌型基因频率分别为分泌基因Se:0 .980 8,非分泌基因se:0 .0 1 92 ( χ2 =0 .0 4 2 1 ,P >0 .75,符合Hardy Weinberg公式 )。 1份用血清学方法不能确定ABO血型的标本 ,用基因分型定为BO1型。结论　PCR SSP是一种方便、可靠的血型基因定型技术 ,与血型血清学方法相比本文非分泌基因se的频率显著偏低 ,4例血清学定为非分泌型个体用该方法鉴定基因型为Se/Se,间接提示G4 4 7A和G757A突变不能完全覆盖我国汉族人群的非分泌基因se。     

Duffy血型的基因分型

目的建立Duffy血型基因分型方法。方法根据Duffy血型cDNA结构,合成分型引物,建立聚合酶链反应-序列特异性引物(PCR-SSP)分型方法,对102例浙江省汉族无血缘关系的献血者进行基因分型。结果PCR-SSP分型方法与血清学分型方法结果完全一致,102例浙江省汉族人,Fya纯合子91例(89.22%),FyaFyb杂合子10例(9.80%),Fyb纯合子1例(0.98%)。Fya基因频率0.9412,Fyb基因频率0.0588。结论PCR-SSP对Duffy血型基因分型,具有方法可靠、稳定,试剂来源广泛等优点,适合于临床常规应用。浙江省汉族Duffy血型基因以Fya为主。     

四川省汉族人群Duffy血型基因分型研究

目的研究四川地区Duffy血型基因型分布,为建立红细胞库奠定基础。方法对150名汉族健康献血者采用PCR-SSP方法进行Duffy血型系统进行基因分型检测。结果四川地区汉族人群Duffy基因分型检测结果,Fya基因频率为:0.929.Fyb:0.071;检出3例Fy(a-b-)个体。结论 PCR-SSP法检测Duffy血型简单、快捷、准确,为建立红细胞库奠定了基础。     

PCR-SSP法检测Rh阴性无偿献血者Duffy血型的基因分型研究

目的调查Rh阴性无偿献血者Duffy血型的基因分型情况。方法用分子生物学技术(PCR-SSP)进行DNA水平的检测,并以Rh阳性无偿献血者作为对照。结果Rh阴性无偿献血者Duffy血型的基因频率为Fya=0.9252,Fyb=0.0747;而Rh阳性无偿献血者的基因频率为Fya=0.95,Fyb=0.05。无Fy(a-b-)个体。结论Rh阴性无偿献血者Duffy血型的基因分型结果显示和Rh阳性无偿献血者无明显差异。     

上海地区汉族人群红细胞稀有血型系统抗原基因的多态性研究

目的研究上海地区汉族临床输血人群8个红细胞稀有血型系统19种抗原基因多态性分布,提高配合性输注的能力。方法应用PCR-SSP方法进行血型抗原基因分型。结果Diego,Dombrock,Duffy血型系统抗原基因频率分别为：Di^a=0.0351,Di^b=0.9649;Do^a=0.0614,Do^b=0.9386;Fy^a=0.9649,Fy^b=0.0351,Fy=0;均具有多态性。而Kell,Yt,Scianna,L-W,Colton血型系统抗原基因频率分布为单态性。经χ2检验,均符合Hardy-weinberg遗传定律。结论上海地区汉族临床输血人群Diego、Dombrock、Duffy血型系统抗原基因频率具有多态性,随机临床输血抗原不合率分别是0.0654、0.1086、0.0654,应引起高度重视。     

A "new" low-incidence red cell antigen, LOCR, associated with altered expression of Rh antigens

BACKGROUND: Mild cases of hemolytic disease of the newborn were being studied when it was recognized that the propositi's red cells carried a novel antigen. STUDY DESIGN AND METHODS: Serologic and genetic studies of a new low-incidence antigen, LOCR (International Society of Blood Transfusion series number 700.53), were performed. RESULTS: The antigen is associated with altered expression of the Rh antigen c in two unrelated families and in a third proposita and with an altered expression of e in a fourth proposita. The lods for the gene controlling LOCR relative to Rh are 2.107 at theta = 0.00; that is, they fall short of the requirement for inclusion of the antigen in the Rh blood group system. LOCR is excluded from the ABO, MNS, Lutheran, Kell, Duffy, Kidd, Xg, Chido/Rodgers, Kx, and Gerbich blood group systems. Genetic evidence suggests it is not part of the Yt, Colton, or LW systems. CONCLUSION: Serologic evidence that LOCR is associated with altered expression of c or e strongly suggests that LOCR is part of the Rh blood group system. However, the genetic evidence falls short of the level required for system assignment.     

Tissue distribution of blood group membrane proteins beyond red cells: evidence from cDNA libraries.

The proteins of blood group systems are expressed on red blood cells (RBC) by definition. We searched nucleotide databases of human expressed sequence tags (EST) to collate the distribution of 22 distinct membrane proteins in cells and tissues other than RBC. The documented blood group genes are: MNS, Rh, Lutheran, Kell, Duffy, Kidd, Diego, Yt, Xg, Scianna, Dombrock, Colton, Landsteiner-Wiener, Kx, Gerbich, Cromer, Knops, Indian, Ok, Raph, John-Milton-Hagen and Gill. The genes were grouped according to their overall and their relative expression in embryo and adults. We describe the distribution of EST in cells, tissues and cell lines with a focus on non-RBC tissues.     

Erythrocyte antigens on human platelets. Absence of Rh, Duffy, Kell, Kidd, and Lutheran antigens

There is considerable controversy as to whether antigens of the Rh, Duffy, Kidd, Kell, or Lutheran red cell systems are present on human platelets. The majority of previous investigators of this topic have reported them to be present. We have used a sensitive two-stage radioimmunoassay to examine human platelets for the presence of antigens of these five red cell systems. Platelets from donors of appropriate red cell phenotype were incubated with monospecific anti-erythrocyte IgG, followed by a second-stage incubation with 125I-labeled mouse IgG monoclonal anti-human IgG (Fc). Analysis of ligand bound per cell demonstrated no significant difference in binding of erythrocyte antibodies to platelets from donors homozygous, heterozygous, or negative for D, C, c, E, e, Fya, Fyb, Jka, Jkb , K, k, and Lub antigens. These findings indicate that major antigens of the Rh, Duffy, Kidd, Kell, and Lutheran systems are not expressed on the surface of human platelets.     

A large cohort study of the effects of Lewis,ABO, 13 other blood groups,and secretor status on COVID-19 susceptibility,severity, and long COVID-19

Background

Previous studies have reported Blood type O to confer a lower risk of SARS-CoV-2 infection, while secretor status and other blood groups have been suspected to have a similar effect as well.

Study design and methods

To determine whether any other blood groups influence testing positive for SARS-CoV-2, COVID-19 severity, or prolonged COVID-19, we used a large cohort of 650,156 Danish blood donors with varying available data for secretor status and blood groups ABO, Rh, Colton, Duffy, Diego, Dombrock, Kell, Kidd, Knops, Lewis, Lutheran, MNS, P1PK, Vel, and Yt. Of these, 36,068 tested positive for SARS-CoV-2 whereas 614,088 tested negative between 2020-02-17 and 2021-08-04. Associations between infection and blood groups were assessed using logistic regression models with sex and age as covariates.

Results

The Lewis blood group antigen Le^a displayed strongly reduced SARS-CoV-2 susceptibility OR 0.85 CI[0.79–0.93] p < .001. Compared to blood type O, the blood types B, A, and AB were found more susceptible toward infection with ORs 1.1 CI[1.06–1.14] p < .001, 1.17 CI[1.14–1.2] p < .001, and 1.2 CI[1.14–1.26] p < .001, respectively. No susceptibility associations were found for the other 13 blood groups investigated. There was no association between any blood groups and COVID-19 hospitalization or long COVID-19. No secretor status associations were found.

Discussion

This study uncovers a new association to reduced SARS-CoV-2 susceptibility for Lewis type Le^a and confirms the previous link to blood group O. The new association to Le^a could be explained by a link between mucosal microbiome and SARS-CoV-2.     

Massively parallel and multiplex blood group genotyping using next-generation-sequencing

ObjectivesThirty-six blood group systems are listed by the International Society of Blood Transfusion, containing almost 350 antigens. Most of these result from a single nucleotide polymorphism (SNP). Serology is the standard method for blood group typing. However, this technique has some limitations and cannot respond to the growing demand of blood product typing for a large number of antigens. Here we describe a blood group genotyping assay directly from whole blood samples using Next-Generation Sequencing (NGS), allowing the simultaneous identification of 15 SNPs associated with the blood group systems of 95 patients in a single run.Design and methodAfter an automated DNA extraction, targets are amplified by multiplex polymerase chain reaction (PCRm). Two panels addressing 9 groups have been developed (MNS, Lutheran, Kell, Duffy, Kidd, Diego, Yt, Dombrock, and Colton), one for 8 SNPs, the other for 7 SNPs. For each sample, both panels corresponding to 14 amplicons (1 amplicon containing 2 SNPs) are pooled. Then a dual-indexed library is generated from each pool by linking Illumina adaptors directly onto amplicons, followed by sequencing using the MiSeq platform (Illumina).ResultsIn a single experiment, 95 blood donor samples have been sequenced for the genes of interest. Among the 1425 targeted single nucleotide polymorphisms, 1420 were identified by sequencing, reflecting a coverage of 99.65%. The obtained data shows a good correlation (99% for all SNPs) with other blood group typing methods. Depending on the allele pairs analyzed, correlations vary between 97.12 and 100%.Conclusion: Next-Generation sequencing would supplement serological and molecular techniques and, in the near future, could replace it with complete and fast results acquisition for pre-screening and identification of rare blood bags.     

ABO血型中的一个新变异O1等位基因的鉴定

目的 鉴定中国人群的ABO血型新等位基因。 方法 ABO血清学定型、PCR-SSP基因定型、基因克隆和测序分析。结果 一个血型血清学为A2亚型、PCR-SSP基因定型为A201的健康捐血者,其O1基因单倍体的2个碱基发生了缺失突变,即第6外显子区域中261位G缺失和第7外显子区域中496位A缺失。该等位基因与ABO*0101基因序列的差异在于496位A缺失。 结论该等位基因是一个与O1基因相关的新变异等位基因,GenBank的注册号为AY374123。     

ABO blood group in Kuwaitis: detailed allele frequency distribution and identification of novel alleles

BACKGROUND: The ABO blood group is clinically the most important blood group system and can now be genotyped easily by DNA-based methods without family studies. STUDY DESIGN AND METHODS: Samples (n = 166) from a Kuwaiti population were phenotyped by standard serologic techniques for the ABO blood group and genotyped for the ABO locus by an established multiplex polymerase chain reaction protocol followed by single-strand conformation polymorphism (SSCP) analysis. Nonstandard SSCP patterns were investigated by DNA sequencing of exons 6 and 7 and, if necessary intron 6. RESULTS: Standard SSCP patterns identified six classical alleles in this population: A101 (0.1115), A102 (0.0181), A201 (0.0301), B101 (0.1627), O101 (0.3103), and O201 (0.2500). One A, 1 B, and 8 O variant alleles were identified (total frequency, 0.1175). All variant alleles were each present in one or two chromosomes (< or =0.0060) in our samples except O109 (0.0813). Three of these 10 variant alleles were novel alleles defined by newly identified single-nucleotide polymorphisms in exon 7 (527G>A, 687C>T, and 1116G>A). One new base substitution result in amino acid change. CONCLUSIONS: This is the first study reporting the detailed distribution of ABO alleles and genotypes in Kuwaitis. Sixteen alleles were identified, including 3 novel alleles.     

彝族人乙醛脱氢酶2基因多态性及其与饮酒习惯的关系

目的：探讨彝族人乙醛脱氢酶2基因多态性及其与饮酒习惯的关系。方法采用多聚酶链式反应-限制性长度片段多态性技术测定215名彝族人乙醛脱氢酶2基因多态性,并分析其与饮酒习惯的关系。结果本组中乙醛脱氢酶2基因的 G1951A 位点野生纯合型频率为91．1％、杂合型为6．0％、纯合型为2．8％,等位基因G、A频率分别为94．2％、5．8％;饮酒者和非饮酒者及不同饮酒频度、饮酒量者比较差异均有显著性（ P＜0．05或0．01）。结论彝族人的乙醛脱氢酶2基因具有多态性,其饮酒习惯与乙醛脱氢酶2基因型分布有明显相关性。