广州地区献血人群HLA-A、B、DRB1高分辨等位基因及单体型多态性的研究

目的:研究广州地区献血人群HLA-A、B、DRB1等位基因多态性的分布特征。方法:应用序列特异引物-聚合酶链反应(polymerase chain reaction-sequence-specific primer,PCR-SSP)高分辨试剂分型,对广州地区1691名无血缘关系的健康人群HLA-A、B、DRB1进行基因分型。结果:检出HLA-A、B、DRB1等位基因分别有37、76、43种,经统计分析这3个基因座分布均符合Hardy-Weinberg平衡定律(P0.05),A*02:07-B*46:01-DRB1*09:01(4.293%)和A*33:03-B*58:01-DRB1*03:01(3.284%)单体型是广州地区献血人群最常见单体型。结论:广州地区献血人群HLA-A、B、DRB1基因座单体型分布具有高度的遗传多态性且有其自身分布特点。研究获得的HLA-A、B、DRB1基因座单体型分布数据及相关遗传参数资料,为HLA在人类学、免疫遗传学、法医学和其它的组织器官移植方面的应用和科学研究提供和积累了基础资料。     

济南汉族人群HLA-A、B、DRB1等位基因高分辨多态性分析

目的 分析济南地区汉族人群人类白细胞抗原(human leukocyte antigens,HLA)-A、B、DRB1座位等位基因的高分辨多态性.方法 采用PCR-测序分型(PCR-sequence-based typing,PCR-SBT)对鲁南地区483名无血缘关系的汉族健康个体进行HLA-A、B、DRB1座位高分辨基因分型,采用Arlequin3.5软件计算等位基因频率、单倍型频率,并就常见等位基因与其他人群进行比较.结果 济南汉族HLA-A、B、DRB1座位分别检出27、56和41个等位基因,其中等位基因频率分布最高的分别是A* 11∶01 (0.1615)、B*13∶02(0.1163)和DRB1* 07∶01 (0.1763);最常见的A*-B*-DRB1*单倍型是A*30∶01-B* 13∶02-DRB1* 07∶01 (0.0867).结论 济南地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的多态性.     

山东省烟台和威海地区汉族HLA-A、B和DRB1等位基因多态性及遗传距离分析

目的 分析山东省烟台和威海地区汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、B、DRB1等位基因的多态性分布特征,并探讨该人群与其他人群的亲缘关系.方法 应用聚合酶链反应-序列特异性寡核苷酸探针方法(polymerase chain reaction-sequence specific olignucleotide probe,PCR-SSOP)对山东省烟台和威海地区4062名无亲缘关系的汉族健康个体进行HLA-A、B、DRB1基因分型.采用Arlequin3.5软件计算HLA等位基因频率、单倍型频率和连锁不平衡参数,按内氏公式计算出不同人群之间的遗传距离,并利用Mega5.0软件构建系统发生树.结果 该人群HLA-A、B、DRB1等位基因分布均符合Hardy-Weinberg平衡(P＞0.1).3个基因座分别检出18、33和13个等位基因,其中等位基因频率分布最高的分别是A* 02 (0.2935)、B* 15 (0.1485)和DRB1* 15 (0.1621);最常见的单倍型为A* 30-B* 13-DRB1* 07(0.0649),A* 33-B* 58、A*66-DRB1* 13、B*08-DRB1* 03呈现最强的连锁不平衡;山东省烟台和威海汉族人群与吉林省汉族人群遗传距离最小,为0.0034.结论 山东省烟台和威海地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的遗传多态性,该人群与吉林汉族人群亲缘关系最近.     

西北地区汉族人群HLA-A、-B、-DRB1基因座单倍型分析

目的 分析西北地区汉族群体HLA-A、-B和-DRB1基因座等位基因频率和HIA-A-B、B-DRB1和A-B-DRB1单倍型，获得单倍型频率数据。方法 采用序列特异性寡核苷酸探针反向斑点杂交技术对西北地区62个家系和101个无关个体HLA-A、-B和-DRB1基因座进行基因分型，分析HLA单倍型。结果 在西北地区汉族人群中检出15个HLA-A等位基因，28个HLA-B等位基因，13个HLA-DRB1等位基因，A02、A11、A24、B13、B15、1340、DRB1＊04、DRB1＊07、DRB1＊09和DRB1＊15基因频率较高（〉10％），A02（0．3244）、B13（0．1200）和DRB1＊15（0．1400）等位基因频率最高。分析得出HLA-A-B、B-DRB1、A-B-DRB1单倍型分别有122、147和278种，83种A-B-DRB1单倍型有至少两条以上相同的单倍型，占总单倍型数的18．44％（83／450）。A30-B13-DRB1＊07、A02-B46-DRB1＊09、A01-B37-DRB1＊10、A24-B15-DRB＊15、A02-B46-DRB1＊08、A33-B58-DRB1＊03是最常见的单倍型。结论 西北地区汉族群体HLA单倍型多态性较为丰富，等位基因频率和单倍型频率数据可用于骨髓移植供者的选择、法医学亲权鉴定以及人类学研究。     

人类白细胞抗原A和C座位基因重组二个家系分析

目的 探讨2个家系人类白细胞抗原(human leukocyte antigen,HLA)座位的重组情况.方法 采用聚合酶链反应-序列特异寡核苷酸探针技术检测2个家系成员HLA-A、-C、-B、-DRB1和-DQB1位点,应用测序分型方法进行HLA高分辨基因分型,然后通过家系遗传分析确定HLA基因重组相关位点,检测短串联重复序列位点确定其家系成员亲权关系.结果 2个家系HLA单倍型的重组发生在HLA-A和C位点之间,家系调查显示1例为父源、1例为母源HLA单倍型发生了交换后遗传给子代,短串联重复序列结果证实2个家系成员内具有高度的亲权关系.结论 发现了2个中国汉族人群HLA-A和C基因座位间的基因重组家系,为深入研究HLA的重组机制提供了基础.     

西藏门巴族人群HLA-A、B和DRB1基因座多态性

目的 分析西藏门巴族HLA-A、B和DRB1 3个基因座的遗传特征，并研究其民族起源。方法应用序列特异性寡核苷酸探针反向斑点杂交技术对西藏自治区门巴族居住区47名门巴族无关个体HLA-A、B和DRB1基因座进行分型。对门巴族和我国其他11个群体(民族)的HLA-DRB1基因频率采用Neighbor-Joining(NJ)方法进行聚类分析。结果 在西藏门巴族人群中HLA-A基因座共检出23个等位基因，其中HLA-A*1101，A*2402，A*02011，A*0206基因最常见；HLA-B基因座共检出39个等位基因，其中HLA-B*3802，B*4001，B*4002，B*51011基因最常见；HLA-DRB1基因座共检出33个等位基因，其中HLA-DRB1*12021，DRB1*0403，DRB1*0701，DRB1*1201基因最常见，频率最高的等位基因分别是HLA-A*1101(0．2128)，HLA-B*3802(0．1064)和HLA-DRB1*12021(0．0851)。结论 西藏门巴族人群HLA基因座具有高度遗传多态性，聚类分析门巴族与西藏藏族遗传关系较近。     

广西汉族人群HLA-A、-B、-DRB1高分辨等位基因和单倍型多态性的初步分析

目的分析广西汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、-B、-DRB1等位基因和单倍型的分布特征。方法采用多聚酶链式反应-基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT)对广西地区1 644名汉族无关个体进行HLA-A、-B、-DRB1等位基因和单倍型多态性的分型,使用Arlequin软件(3.5.2.2)计算HLA等位基因频率、单倍型频率和连锁不平衡参数。使用MEGA v6.0软件构建系统发生树,并与其他部分中国汉族人群的基因频率进行比较。结果该人群HLA-A、-B、-DRB1等位基因分布均偏离Hardy-Weinberg平衡(P0.05),3个位点分别检出37种HLA-A,70种HLA-B和37种HLA-DRB1等位基因。其中,等位基因频率分布最高的分别是A~*11∶01(28.86%)、B~*46∶01(14.26%)和DRB1~*15∶01(13.32%),最常见的单倍型是A~*33:03-B~*58∶01-DRB1~*03∶01(6.12%),A~*02∶07-B~*46∶01、A~*11∶01-DRB1~*15∶01和B~*58∶01-DRB1~*03∶01呈现最强的连锁不平衡。该人群与广西壮族人群亲缘关系最近,其多态性最接近的汉族是中国南方汉族。结论广西汉族人群HLA-A、-B、-DRB1等位基因和单倍型有较高的遗传多态性,将为中国人群在临床寻找HLA匹配的无关亲缘供者、法医学研究以及人类学研究等提供有价值的遗传学依据。     

The distribution of HLA-A, -B, and -DRB1 alleles and haplotypes in inhabitants of Guizhou Province of China

The present study was aimed to analyze the frequencies of human leukocyte antigen (HLA)-A,-B,and-DRB1 alleles and A-B-DRB1,A-B,A-DRB1 and B-DRB1 haplotypes in inhabitants of Guizhou province,China.All samples were typed in the HLA-A,-B,and-DRB1 loci using the polymerase chain reaction-reverse sequence specific oligonucleotide probe (PCR-rSSOP) method and HLA polymorphisms were analyzed.A total of 18 HLA-A,31 HLA-B,and 13 HLA-DRB1 alleles were found in the Guizhou population.The first two frequent alleles in the HLA-A,-B,and-DRB1 loci were A11(30.72%) and A02(30.65%),B40(16.27%) and B46(16.27%),and DRB109(15.91%) and DRB115(13.51%),respectively.The most common haplotype was A02-B46DRB109(5.59%) in A-B-DRB1,A02-B46(11.73%) in A-B,B46-DRB109(7.49%) in B-DRB1,and A02DRB109(8.08%) in A-DRB1.Some haplotypes with strong linkage disequilibrium (LD) were found not only in the common haplotypes,such as A33-B58,B30-DRB107,and B33-DRB103,but also in the rare haplotypes,such as A01-B37,B37-DRB110,and A01-DRB110.Guizhou inhabitants shared some characteristics of the Southern Chinese population but also had their own unique features.Overall,HLA polymorphism in Guizhou population was more consistent with that of Chengdu population than that of other populations in China.     

大连地区汉族人群HLA-A,-B,-DRB1 位点基因多态性研究

目的:了解大连地区汉族人群HLA-A,-B,-DRB1 位点基因多态性分布特征。方法:采用基因测序及序列特异性寡核苷酸探针的方法对10 000 名居住在大连地区健康汉族造血干细胞捐献者进行HLA-A,-B,-DRB1 基因分型,从而得到等位基因频率。利用ARLEQUIN 软件估算单倍型频率及连锁不平衡参数,使用poptree2 软件计算两人群间遗传距离(DA)。结果:大连地区汉族人群中共检出HLA-A 基因18 个、HLA-B 基因32 个、HLA-DRB1 基因13 个,HLA-A*02(31.65%)、B*40(14.84%)、DRB1*15(15.82%)最为常见。三位点单倍型中A*30-B*13-DRB1*07(4.56%)频率最占优势,A*02-B*46-DRB1*09(2.43%)次之。A*30-B*13(6.00%)与B*13-DRB1*07(59.89%)为频率最高的两位点单倍型。A*33-B*58与B*13-DRB1*07 为大连地区汉族人群中最强连锁不平衡两位点单倍型,连锁不平衡参数分别为0.336 6 和0.665 1。大连汉族人群与国内某些人群进行比较,遗传距离最近的是黑龙江(0.001),其次为吉林(0.002)和山东(0.002),遗传距离最远的是台湾(0.047)。与国外其他人群进行比较,遗传距离最近的是泰国(0.029)和韩国(0.03),而遗传距离最远的是意大利(0.183)。结论:大连地区汉族人群HLA-A,-B,-DRB1 基因具有较为丰富的多态性,其分布符合北方人群的特点。     

HBV感染者HLA-Ⅰ类和HLA-Ⅱ类基因单倍型分析

目的 本研究对黑龙江地区乙型肝炎病毒(HBV)感染者进行了人类白细胞抗原(HLA)Ⅰ类和Ⅱ类基因单倍型分析,并结合HBV-C2亚型探讨其与HBV感染者最终清除病毒和慢性持续的关系.方法 本研究共230个HBV感染者与210个健康无血缘关系健康人作为对照进行比较,并对所有患者进行了HLA等位基因分型和单倍型的连锁分析.结果 本地区最常见的单倍型是A*02-B*40.A*02-DRB1*08,A*02-DRB1*09,A*02-DRB1*12,A术11-DRB1*15,A*24-DRB1*09,A*33-DRB1*07,B*13-DRB1*12,B*15-DRB1*15,B*40-DRB1*08,B*40-DRB1* 09,B*51-DRB1* 09,B*51-DRB1*15,和A*02-B* 15-DRB1* 09携带者可能更易于感染HBV,而A*24-B*13,B*13-DRB1*09,A*02-DRB1*07,A*33-DRB1*13,A*33-DRB1*15,和A* 02-B* 40-DRB1* 15可能保护机体免受HBV感染.另外A*02-DRB1* 12可能还与病毒持续慢性感染相关.感染HBV C2亚型病毒后,A*24-DRB1* 14,B*15-DRB1* 04,A*02-B* 15,A*02-DRB1* 15和A*02-B15-DRB1* 09携带者可能伴有急性的临床发作过程并最终清除病毒.结论 本研究报道了HLA单倍型与HBV感染亚型与感染者临床预后的关系,对HBV的潜在的靶向治疗提供了一定的理论基础.     

Striking conservation of three extended HLA-DR13 haplotypes in the Japanese population

Abstract: HLA class II DNA typing was conducted for 1335 unrelated Japanese individuals. The study on the linkage disequilibrium revealed a striking conservation of HLA DR13 haplotypes. Among these Japanese, 155 were typed for HLA-DR13 serologically, and they were correspondent to three DRB1 alleles, DRB1*1301, 1302 and 1307 defined by using the polymerase-chain reaction and sequence-specific oligonucleotide probe (PCR-SSOP) method. The two alleles, DRB1*1301 and 1307 were exclusively associated with each specific DRB3-DQA1-DQB1 combination which was DRB1*1301-DRB3*0101-DQA1*0103-DQB1*0603, and DRB1*1307-DRB3*0202-DQA1*0501-DQB1*0301, respectively. DRB1* 1302, the most common DR13 allele in Japanese, had two significant associations with DRB3*0301-DQA1*0102-DQB1*0604 (DRB1*1302A) and with DRB3*0301-DQA1*0102-DQB1*0605 (DRB1*1302B). In this study, no other DR13 class II combinations were found. Ony the DRB1*1302A halotype was associated with the DPB1*0401 allele while the DRB1*1302B haplotype was not. The complete conservation of these DR13 class II haplotypes was found to extend toward the HLA class I region. They were HLA A3-B44-DRB1*1301, A33-B44-DRB1*1302A and A33-B17-DRB1*1302B. Japanese could be characterized with these three extended haplotypes which were remakrably different from those in Caucasian, Black and Asian other than Korean populations.     

Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population

High-resolution human leukocyte antigen (HLA) typing exposes the unique patterns of HLA allele and haplotype frequencies in each population. In this study, HLA-A, -B, -C, -DRB1, and -DQB1 genotypes were analyzed in 485 apparently unrelated healthy Korean individuals. A total of 20 HLA-A, 43 HLA-B, 21 HLA-C, 31 HLA-DRB1, and 14 HLA-DQB1 alleles were identified. Eleven alleles (A*0201, A*1101, A*2402, A*3303, B*1501, Cw*0102, Cw*0302, Cw*0303, DQB1*0301, DQB1*0302, and DQB1*0303) were found in more than 10% of the population. In each serologic group, a maximum of three alleles were found with several exceptions (A2, B62, DR4, DR14, and DQ6). In each serologic group exhibiting multiple alleles, two major alleles were present at 62-96% (i.e. A*0201 and A*0206 comprise 85% of A2-positive alleles). Multiple-locus haplotypes estimated by the maximum likelihood method revealed 51 A-C, 43 C-B, 52 B-DRB1, 34 DRB1-DQB1, 48 A-C-B, 42 C-B-DRB1, 46 B-DRB1-DQB1, and 30 A-C-B-DRB1-DQB1 haplotypes with frequencies of more than 0.5%. In spite of their high polymorphism in B and DRB1, identification of relatively small numbers of two-locus (B-C and DRB1-DQB1) haplotypes suggested strong associations of those two loci, respectively. Five-locus haplotypes defined by high-resolution DNA typing correlated well with previously identified serology-based haplotypes in the population. The five most frequent haplotypes were: A*3303-Cw*1403-B*4403-DRB1*1302-DQB1*0604 (4.2%), A*3303-Cw*0701/6-B*4403-DRB1*0701-DQB1*0201/2 (3.0%), A*3303-Cw*0302-B*5801-DRB1*1302-DQB1*0609 (3.0%), A*2402-Cw*0702-B*0702-DRB1*0101-DQB1*0501 (2.9%), and A*3001-Cw*0602-B*1302-DRB1*0701-DQB1*0201/2 (2.7%). Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.     

应用SBT直接测序分型法研究中国南方汉族人群HLA五个基因座单倍型

目的 研究中国南方汉族人群HLA-A、B、Cw、DRBl、DQBl等位基因多态性及单倍型的分布特征.方法 应用聚合酶链反应-直接测序分型(polymerase chain reaction sequence-based typing,PCR-SBT)法对186名中国南方汉族健康人群HLA-A、B、Cw、DRBl、DQBl进行基因分型.结果 检出的HLA-A、B、Cw、DRBl、DQBl等位基因分别有28、49、24、29、20种.经统计分析A*0207-B*4601(10.81%),A*3303-B*5801(6.14%),B*4601-DRBl*0901(6.22%),B*4001*DRBl*0901(3.78%),DRBl*0901-DQBl*0303(12.16%)和DRBl*1202-DQBl*0301(8.38%)单倍型呈强连锁不平衡单倍型(RLF≥0.5,X<'2>>3.84,P<0.05);A*0207-B*4601-Cw*0102(10.75%),A*3303-B*5801-Cw*0302(5.14%),A*0207-B*4601-DR*0901(5.07%),A*3303-B*5801-DRBl*0301(2.96%),A*0207-B*4601-Cw*0102-DRBl*0901-DQBl*0303(4.87%)和A*1101-B*1301-Cw*0304-DRBl*1501-DQBl*0601(2.43%)单倍型分别是中国南方汉族人群常见单倍型.结论 中国南方汉族人群HLA 5个基因座单倍型分布具有高度的遗传多态性且有其自身分布特点.本研究获得的较完整的HLA 5个基因座单倍型分布数据,将为人类学、HLA疾病相关性和器官移植等研究提供遗传学参考数据.     

HLA class II allele and haplotype frequencies in Koreans based on 107 families

We have investigated the distribution of HLA class II alleles and haplotypes in 107 Korean families (207 parents and 291 children) for the HLA-DRB1, DRB3/B4/B5, DQA1, DQB1 and DPB1 loci. Numbers of alleles observed for each locus were DRB1: 25, DQA1: 14, DQB1: 15, and DPB1: 13. Only two to three alleles were observed for the DRB3 (*0101, *0202, *0301), DRB4 (*0103, * 0103102 N), and DRB5 (*0101, *0102) loci. These alleles showed strong associations with DRB1 alleles: DRB3*0101 with DRB1*1201, *1301 and *1403; DRB3*0301 with DRB1*1202 and *1302; DRB3*0202 with DRB1*0301, *1101, *1401 and *1405; DRB5*0101 and *0102 were exclusively associated with DRB1*1501 and *1502, respectively. The seven most common DRB1-DQB1 haplotypes of frequencies > 0.06 accounted for 52% of the total haplotypes. These haplotypes were exclusively related with the seven most common DRB1-DRB3/B4/B5-DQA1-DQB1 haplotypes: DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602 (0.085), DRB1*0405-DRB4*0103-DQA1*0303-DQB1*0401 (0.082), DRB1*09012-DRB4*0103-DQA1*0302-DQB1*03032 (0.082), DRB1*0101-DQA1*0101-DQB1*0501 (0.075), DRB1*0701-DRB4*0103-DQA1*0201-DQB1*0202 (0.065), DRB1*0803-DQA1*0103-DQB1*0601 (0.065), and DRB1*1302-DRB3*0301-DQA1*0102-DQB1*0604 (0.065). When these haplotypes were extended to the DPB1 locus, much diversification of haplotypes was observed and only one haplotype remained with a frequency of > 0.06: DRB1*0405-DRB4*0103-DQA1*0303-DQB1*0401-DPB1*0501 (0.062). Such diversification would have resulted from cumulated events of recombination within the HLA class II region, and the actual recombination rate observed between the HLA-DQB1 and DPB1 loci was 2.3% (10/438 informative meioses, including 2 recombinants informative by analysis of TAP genes). Comparison of the distribution of DRB1-DQB1 haplotypes with other populations revealed that Koreans are closest to Japanese people. However, Koreans share a few haplotypes with white people and Africans, which are rare in Japanese: DRB1*0701-DQB1*0202 and DRB1*1302-DQB1*0609. The results obtained in this study will provide useful information for anthropology, organ transplantation and disease association studies.     

Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701

The distribution of HLA-B17 alleles and their association with HLA-A, -C and -DRB1 alleles were investigated in seven East Asian populations Japanese, South Korean, Chinese-Korean, Man, Northern Han, Mongolian and Buryat populations). The B17 alleles were identified from genomic DNA using group-specific polymerase chain reaction (PCR) followed by hybridization with sequence-specific oligonucleotide probes (SSOP). In all of these East Asian populations, except Japanese and Chinese-Koreans, B*5701 was detected and strongly associated with A*0101, Cw*0602 and DRB1*0701. In contrast, B*5801 was detected in all the seven populations and strongly associated with A*3303, Cw*0302, DRB1*0301 and DRB1*1302. The A*3303-Cw*0302-B*5801-DRB1*1302 haplotype was observed in South Korean, Chinese-Korean, Buryat and Japanese populations, while A*3303-Cw*0302-B*5801-DRB1*0301 was predominantly observed in the Mongolian population. A similar haplotype, A*0101-Cw*0302-B*5801-DRB1*1302, was observed in the Buryat population. A novel Cw6 allele, Cw*0604, was identified in the Man population. This Cw allele was observed on the haplotype A*0101-B*5701-DRB1*0701. Thus, we confirmed, at the sequence level, that the common haplotypes carrying B*5701 and B*5801 have been conserved and shared in East Asian populations.     

Polymorphisms of human leucocyte antigen genes in Maonan people in China

We examined human leucocyte antigen (HLA) gene polymorphisms in the Maonan people from southern China. HLA-A, -B and -DRB1 alleles were determined in 108 healthy unrelated Maonan individuals by the polymerase chain reaction-Luminex method, and haplotype frequencies for HLA-A, -B and -DRB1 loci were estimated. The most frequent HLA-A alleles were A*1101 (35.2%), A*0203 (17.6%), A*0207 (13.4%) and A*2402 (13.4%); HLA-B alleles were B*1301(19.9%), B*1502 (14.8%), B*4601 (13.4%) and B*4001 (13.4%); HLA-DRB1 alleles were DRB1*1202 (17.1%), DRB1*1602 (13.0%) and DRB1*1401 (10.7%). The most common haplotypes were A*0207-B*4601 (10.6%), A*1101-B*1301 (10.0%), A*1101-B*4001 (8.4%), B*1502-DRB1*1202 (12.0%), B*4601-DRB1*1401 (5.8%), A*1101-B*1502-DRB1*1202 (7.1%) and A*0207-B*4601-DRB1*1401 (5.3%), profiles that are also found in populations from the southern region of East Asia. Phylogenetic and principal component analyses revealed that the Maonan people belong to the southeastern Asian group and are most closely related to the Buyi people.     

Human leukocyte antigen-A, -B, and -DRB1 haplotypes of cord blood units in the Tzu Chi Taiwan Cord Blood Bank

Cord blood (CB) is considered an alternative resource to bone marrow and peripheral blood stem cells (PBSC) for allogeneic stem cell transplantation. In this study, human leukocyte antigen (HLA)-A, -B, and -DRB1 high-resolution allele types were analyzed from a total of 710 CB units in the Tzu Chi Taiwan Cord Blood Bank. We observed 21 HLA-A alleles, 59 HLA-B alleles, and 28 HLA-DRB1 alleles, whereas 19 unique alleles were present in the CB units of 2,023 individuals selected for confirmatory testing in the Tzu Chi Taiwan Marrow Donor Registry (TCTMDR). The allelic associations between the HLA-A and -B locus were stronger than that of either the HLA-B and -DRB1 loci or the HLA-A and -DRB1 loci. The most common haplotype of CB units in the general Taiwanese population was A*3303-B*5801-DRB1*0301 (6.59%), followed by A*0207-B*4601-DRB1*0901 (3.47%) and then A*1101-B*4001-DRB1*0901 (2.11%). Moreover, two haplotypes, A*2402-B*5201-DRB1*1502 and A*0201-B*1301-DRB1*1202, existed uniquely in the CB units but were not observed in the data of TCTMDR. Although the number of CB units studied for high-resolution of HLA typing in the current study is small, we believe our data should provide useful information to increase the chances of obtaining acceptable HLA-A-, -B-, and -DRB1-matched CB units for patients.     

HLA-B14 subtyping by semi-nested PCR-SSP and haplotype distribution in a Spanish population

HLA-B14 serological subtyping is very limited probably due to the internal position of the unique amino acid residue that differentiates B64 and B65 molecules. In order to carry out an accurate B14 subtyping we have designed a semi-nested PCR-SSP procedure that can differentiate B*1401 and B*1402 in any HLA-A, -B or -C antigen combination. A panel of 133 B14-positive and 31 B14-negative healthy and unrelated Spanish individuals were studied. Additionally, 45 B14-bearing haplotypes (-A,-B,-C,-DRB1,-DRB3/DRB4/DRB5,-DQA1,-DQB1) were available through family studies. The relative frequencies of HLA-B14 subtypes were 74% for B*1402 and 26% for B*1401, in agreement with those found in other Central European populations, but differing from those in Wales, where the relative presence of B64 goes to 41%. A total of 11/17 and 18/28 different haplotypes for B*1401 and B*1402, respectively, were identified. Both alleles showed the strongest association to Cw8 (43/45), indicating a primary ancestral B14-Cw8 association. However, B14 subtypes evidenced very distinguishable haplotype distributions. B*1401 is strongly associated with the common HLA class II haplotype DRB1*0701-DQA1*0201-DQB1*02 (13/17), while B*1402 is mainly associated to DRB1*0102 (16/28). Three major haplotypes were identified: A32-Cw8-B*1401-DR7-DQ2 (5/17), A33-Cw8-B*1402-DRB1*0102-DQ5 (5/28) and A2-Cw8-B*1402-DRB1*0102-DQ5 (5/28).