上海地区人群中部分稀有血型筛选

目的了解上海地区人群中部分稀有血型的频率和分布情况,用于解决临床上稀有血型的用血问题。方法利用稀有单克隆、多克隆抗血清,对Kell血型系统的K0,Miltenberger血型系统的Mur＋,Duffy血型系统的Fya-,高频率抗原中的Lan-、Vel-进行筛选;用2 mol/L尿素进行Kidd血型系统的Jk（a-b-）表型筛选。筛选方法包括试管法间接抗人球蛋白试验（IAT）,U型96孔微量板IAT和U型96孔微量板盐水直接离心法试验。结果从24 093名献血者中发现1例K0表型;在2 970名献血者中检出15例Mur＋;从200名献血中,检出1例Fya-;从6 153名献血者中发现2例Vel-;在300名献血者中发现了1例Lan-;在102 760名献血者中,成功检出4例Jk（a-b-）。结论Mur＋、Lan-、Jk（a-b-）表型频率明显高于白种人;Fya-表型频率低于白种人。     

广西侗族人群稀有血型筛选

目的了解广西侗族人群稀有血型的的种类与频率。方法采用96孔微量板法筛选成人i、Ge-、Lub、GPA和抗-Wrb血型;试管法筛选Mur+、孟买/类孟买血型;间接抗球蛋白试验筛选Rh稀有血型;120孔微量板法(Olympus微孔板)直接离心试验和间接抗球蛋白试验筛选单克隆抗体检测的稀有血型抗原;96孔微板2 mol/L尿素攻膜试验筛选Jk(a-b-)表型。结果在1 927名侗族人群中分别筛选出Lub-7例、Jk(a-b-)1例;在844例侗族人中筛选出Mur+130例。结论广西侗族人群Mur+频率为15.4%、Jk(a-b-)表型频率为0.052%,和Lub-频率为0.36%,均高于白种人及广东番禺地区;其中Mur+和Jk(a-b-)稀有表型频率高于我国上海地区,Mur+明显低于我国云南怒族人群;Jk(a-b-)高于日本及中国台湾,低于太平洋群岛波利尼亚人。     

广州番禺地区献血人群稀有血型的筛选

目的了解广州番禺地区献血者Jk(a-b-)、Mur+、H-、Lub-、Tja-、M-N-、Ena-、Ge-、Rhnull、K0、Wrb-和i稀有血型的分布。方法采用2mol/L尿素溶血试验对50 034名受检献血者的红细胞作JK(a-b-)筛选;采用96孔和120孔微量板法直接离心试验和间接抗球蛋白试验,对Mur+、H-、Lub-、Tja-、M-N-、Ena-、Ge-、Rhnull、K0、Wrb-和i进行筛选。结果在50 034人中筛选出Jk(a-b-)10例,293人中筛选出Mur+21例,15 342人中筛选出类孟买血型3例,4 204人中筛选出Lub-2例。结论广州番禺地区献血者Jk(a-b-)稀有血型频率约为0.02%,Mur抗原阳性率约为7.17%,Lub-频率约为0.048%,类孟买血型频率约为0.019%。     

上海地区部分人群Jk(a-b-)、Di~b-、Wr~b-、K_0、Ena-、Tja-、Ge-稀有血型筛选

目的　了解上海地区人群中部分稀有血型的分布 ,以解决临床稀有血型用血问题。方法　采用 2M尿素对受检红细胞进行Kidd血型系统的Jk(a -b - )表型筛选 ;利用稀有单克隆、多克隆抗血清 ,对Diego血型系统的Dib-、Wrb- ,Kell血型系统的K、K0 ,MNS血型系统的Ena - ,P血型系统的Tja - ,Miltinberger血型系统的Murf,Gerbich血型系统的Ge -进行筛选。筛选方法采用试管法间接抗人球蛋白试验 (IAT) ,U型 96孔微量板IAT和盐水直接离心法试验。结果　在 6 4 5人中筛选到Di(a +b - ) 1例 ,90 0人中筛选到Mur(+) 6例 ,10 0 5 7人中筛选到K(+) 7例 ,4 84 0 0人中筛选到Jk(a -b - ) 2例 ,而在 4 0 0 0人的筛选中未发现Wrb-、K0 、Ge -和Ena -表型。结论　上海地区人群中Dib-、Mur+、Jk(a-b - )的红细胞表型明显高于白种人和黑人。     

应用血清学和分子生物学方法筛选浙江汉族人群中部分稀有血型

本研究探讨浙江汉族人群部分红细胞血型系统稀有表型的分布情况。利用血清学技术或分子生物学方法分别筛选H系统H-、MNS系统GPA-和s-、Rh系统Rhnull、Rhmod、D--、CCDEE和CCdEE、Gerbich系统GPC-、I系统i+、Lutheran系统Lub-、Kell系统k-和Jsb-、Duffy系统Fya-、Ok系统Oka-、Diego系统Dib-。利用尿素溶血试验筛选Kidd系统Jk(a-b-)表型。结果表明:1 618例献血者中检出1例Di(a+b-),1 007例献血者检出3例Fy(a-b+),633例Rh阴性献血者检出1例CCdEE。大规模筛选中未发现Jk(a-b-)、H-、GPA-、s-、GPC-、成人i+、Lub-、k-、Jsb-、Lub-和Oka-稀有血型。结论:在献血人群中发现Di(a+b-)、Fy(a-b+)、CCdEE稀有表型,提供了浙江汉族人群部分红细胞稀有血型的分布数据。     

成都地区献血人群Jk(a-b-)表型筛查

目的了解成都地区献血人群中Jk(a-b-)表型的分布。方法用尿素溶血试验(96孔微量板法)筛选出不溶血个体,然后用血清学方法确定表型,PCR-SSP法确定基因型。结果共筛查标本36 188份,筛查到血清学Jk(a-b-)表型8份,其基因分型均含有Jkb。结论成都地区献血人群中Jk(a-b-)表型频率为0.022%,建立本地区Jk(a-b-)表型献血者库是解决该类血型患者输血问题的有效措施。     

新疆人群稀有血型筛选结果分析

目的在新疆人群中筛选稀有血液。方法总共筛选38 361人次。采用血型血清学方法结合Olym-pus120孔梯度微量板法,对乌鲁木齐市O型随机献血者33 877人次和乌鲁木齐市(和田)维吾尔族O型大学生、喀什地区中心血站O型维吾尔族随机献血者4 484人次,筛选Rhnull、-D-、DCCEE、dCCEE、Ko、Jk(a-b-)、ii、Oh、MkMk、Ge(-)、En(a-)、Wrb和Lu(b-)13个表型。结果筛出5例稀有血型。汉族31 238人次,筛出DCCEE表现型1例,频率约1/3万;Jk(a-b-)表现型2例,频率约1/1.5万;类孟买(OHmA)1例,频率约1/3万。维吾尔族4 484人次,筛出DCCEE表型1例,频率约1/0.5万,回族1 739人次、其他民族900人次均未筛出。结论稀有血型筛选很有必要。     

内蒙古呼和浩特地区献血者稀有血型筛选

目的在内蒙古呼和浩特地区无偿献血者人群中筛选稀有血型,并了解稀有血型的种类和频率。方法随机对22309名无偿献血者标本,采用尿素溶血试验筛选Jk(a-b-)表型;对1 766名O型蒙古族无偿献血者标本,用96孔微量板法和改良的抗球蛋白试验筛选Oh、i、Ge、Lub、GPA、Wrb、Rh等稀有血型,用试管法和经典的间接抗球蛋白试验方法进行确认。结果在22 309名无偿献血者中共筛选到Jk(a-b-)血型1例,其分布频率为0.004 4%;在1 766名蒙古族献血人群中共筛出Lu(b-)2例,其分布频率为0.113%。结论 Jk(a-b-)分布频率低于广州(0.02%)和成都(0.022 1%),与上海(0.0041%)、长春(0.005%)接近,高于日本(0.002 2%);Lu(b-)分布频率存在地区和民族差异,与国内报道比较,低于广西侗族(0.363%)和广西壮族(1.259%),高于广东番禹地区汉族(0.048%)、新疆维吾尔族(0/3 335)和浙江丽水畲族(0/3 580)。     

稀有抗体抗-Jk~3的发现及Jk(a-b-)血型家系遗传背景研究

目的研究抗-Jk3的血清学特异性及产生该抗体的Jk(a-b-)稀有血型的遗传途径,了解该血型在广州地区人群的分布。方法患者血清与试剂谱红细胞在盐水介质,低离子介质凝聚胺和coomb's微柱凝胶中反应,分析鉴定其抗体特异性;对kidd血型进行家系调查,分析Jk(a-b-)稀有血型的遗传背景;采用2mol/L尿素溶血试验初筛,coomb's微柱凝胶试验确认,对广州地区32 000名献血者的红细胞作Jk(a-b-)血型筛查。结果患者血清与试剂红细胞在低离子凝聚胺介质和coomb's微柱凝胶介质中的反应格局显示患者血清中含有抗-Jk3,kidd血型家系遗传研究提示母方带有Jkb/Jknull基因,推测父方至少带有1条Jknull基因;在32 000名献血者中发现8名Jk(a-b-)个体。结论该例同种抗体为IgG抗-Jk3特异性抗体;隐性基因Jknull可以遗传,当该基因为纯合子时表现为Jk(a-b-)表型个体,该血型在广州地区人群分布频率为0.025%,解决稀有血型患者输血问题的有效措施是建立本地区的稀有血型献血者队伍。     

宜昌地区献血者Jk(a-b-)频率与Jka弱表达表型分子遗传机制研究

目的 了解宜昌地区献血人群Kidd血型系统Jk(a-b-)稀有血型频率与分子遗传学背景.方法 用2 mol/L尿素溶血试验对49999名宜昌中心血站献血者进行Jk(a-b-)筛选,利用单克隆抗-Jka,抗-Jkb对Jk(a-b-)先证者及家系进行表型确证,并对Kidd血型系统编码SLC14A1基因进行全外显子测序.结果...     

The Kidd minus-minus phenotype in a Caucasian

This is the reported example in a Caucasian with the phenotype Jk(a-b-). A strongly reacting antibody was present which was of a single specificity and which could be completely absorbed by either Jk(a+b-) or Jk(a-b+) cells. Since no compatible donors could be found, autotransfusion was done. Family study failed to reveal any other members with the Jk(a-b-) phenotype. The question of a third allele at the Kidd locus is considered.     

广州地区无偿献血者人群中Jk(a-b-)表型筛选及分子遗传学研究

目的了解广州地区无偿献血者人群中,Kidd血型系统中Jk(a-b-)稀有血型个体的分布频率及分子遗传背景。方法用2 mol/L尿素溶解法,对50 000名广州血液中心无偿献血者中的Jk(a-b-)血型个体进行筛选。用传统的血型血清学方法对筛选到的Jk(a-b-)表型进行确证。随后从静脉血中提取DNA,PCR方法扩增Kidd血型系统编码基因Jk的所有编码外显子,并直接进行测序分析。结果在50 000名无偿献血者中共筛选到10名Jk(a-b-)血型个体,在广州地区无偿献血者人群中其分布频率约为0.02%。在对其中8名先证者基因分型中,共发现了2种基因型,纯合IVS5-1GA(n=6),杂合IVS5-1GA/杂合896GA(299GlyGlu)(n=2)。结论广州地区无偿献血者人群中,Jk(a-b-)的分布频率高于已报道的北方人群。高频率分布于太平洋波利尼西亚群岛的变异IVS5-1GA,也是本人群中最常见的基因变异。     

Heterogeneity of the phenotype Jk(a−b−) found in Japanese

Fourteen Jk(a-b-) persons were detected by testing 638,460 Osaka blood donors with an automated 2 M urea technique. Two of these 14 Jk(a-b-) samples were quite different from the hitherto reported Jk(a-b-) phenotype, and a family study showed that the mode of the inheritance was dominant. The red cell membranes of these Jk(a-b-) samples were studied by polyacrylamide gel electrophoresis and unusual protein bands (apparent mw, 67,000 d) were detected.     

Methods for the detection of Jk heterozygotes: interpretations and applications

The lytic properties of red cells from Jk(a+,b+), Jk(a-, b+) and Jk(a+b-) (normal), Jk(a-b-), and obligate Jk heterozygotes were studied. The Jk(a-b-) cells did not hemolyze for at least 15 minutes in either 2 M urea or methylurea, whereas normal cells were completely hemolyzed in 2 minutes. Red cells from Jk heterozygotes demonstrated intermediate levels of hemolysis when compared to normal and Jk(a-b-) red cells. In addition, these cells had less than 10 percent hemolysis when suspended in 2 M methylurea prepared in 0.4 percent phosphate-buffered saline (pH 7.2). This method may be an alternative to hemagglutination titration scoring for the detection of Jk, especially in paternity cases.     

Erythroid urea transporter deficiency due to novel JKnull alleles.

BACKGROUND: The Kidd blood group antigens Jka and Jkb are encoded by the red blood cell (RBC) urea transporter gene. Homozygosity for silent JK alleles results in the rare Jk(a-b-) phenotype. To date, seven JKnull alleles have been identified, and of these, two are more frequent in the Polynesians and Finns. This study reports the identification of other JKnull alleles in Jk(a-b-) individuals of different ethnic or geographic origins. STUDY DESIGN AND METHODS: Nine Jk(a-b-) samples and a sample from a Jk(a-b+) mother of a Jk(a+b-) baby were investigated. Polymerase chain reaction amplification and sequence analysis of the JK gene was performed. Western blotting and urea lysis were used to confirm Jk(a-b-) RBCs. RESULTS: Four novel alleles were identified: two different nonsense mutations, 202C>T (Gln68Stop) and 723delA (Ile262Stop) were identified on otherwise consensus JK*1 and JK*2 alleles, respectively. A missense mutation, 956C>T (Thr319Met), was identified in a JK*1 allele from an African-American and a JK*2 allele in two people of subcontinental Indian descent. Immunoblotting and urea lysis confirmed absence of JK glycoprotein in RBC membranes from a sample carrying the 956C>T mutation. Other previously described JKnull mutations were found in samples of origins other than in which they were first identified. CONCLUSION: The molecular bases of the Jk(a-b-) phenotype are diverse and this is the first report of JKnull alleles in individuals of African and subcontinental Indian descent. Although rare, these alleles should be taken into consideration when planning genotyping strategies for blood donors and patients.     

番禺地区无偿献血人群中Jk(a-b-)表型的筛选与研究

目的研究番禺地区献血人群中Jk(a-b-)表型的分布特点。方法用2mol/L尿素攻膜试验(96孔微量板法)筛选出阴性(不溶血)样本,然后作血清学表型鉴定,对Jk(a-b-)表型进行基因分型及基因组DNA编码区外显子4-11及其侧翼区的分段扩增和测序。结果从本站2004年6月-2006年8月献血的50034名汉族人中筛选出10例Jk(a-b-)表型,频率为0.02%;发现3种突变序列:1)Intron5:3'剪切位点AG>AA,Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(△6)/JKb(△6);2)Exon5:nt222C>A、AA74AAC(Asn)>AAA(Lys),Exon7:nt536C>G、AA179CCT(Pro)>CGT(Arg),Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(222A)/JKb(536G);3)Intron5:3'剪切位点AG>AA,Exon7:nt499A>G,AA167ATG(Met)>GTG(Val),Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(△6)/JKb(499G)。结论在番禺地区献血人群Jk(a-b-)表型查中发现的Exon7:nt499A>G和Exon7:nt536C>G2种突变为首次报道。     

The Jk(a−b−) phenotype in New Zealand Polynesians

The Kidd locus phenotype Jk(a-b-) was detected in 0.9 percent of Polynesians living in New Zealand. Over a period of 13 years, nine examples of anti-Jk3 were detected, one of which caused a delayed hemolytic transfusion reaction. Other examples resulted in mild hemolytic disease of the newborn. The anti-Jk3 reacted as an inseparable antibody, confirmed that inheritance of the Jk(a-b-) phenotype was best explained by the presence of a silent Jk allele.     

Jk(a−b−) red blood cells resist urea lysis

Falsely high automated platelet counts in a patient with aplastic anemia were found to be due to increased resistance of the red blood cells to urea lysis. The patient's blood group Jk(a-b-). Further investigation revealed that this phenomenon occurred with all of eight bloods of the phenotype Jk(a-b-) but not with red blood cells of other phenotypes tested. We therefore report an association of a rare blood group phenotype with unusual red blood cell behavior in vitro.