FCGR3 variants and expression of human neutrophil antigen-1a, -1b,and -1c in the populations of northern Germany and Uganda

BACKGROUND: Human neutrophil antigen-1c (HNA-1c) (SH) has been described as the third alloantigen of the Fc receptor type IIIb (FcgammaRIIIb) for IgG beside the known alloantigens HNA-1a (NA1) and HNA-1b (NA2). Controversy exists on the assignment of the HNA-1c coding gene to the FCGR3B locus and on a possible linkage between the HNA-1c and HNA-1a coding genes. STUDY DESIGN AND METHODS: Two hundred sixty northern German blood donors and 43 individuals from Uganda were typed for FCGR3B*1 (NA1), FCGR3B*2 (NA2), and FCGR3B*3 (SH) by allele-specific PCR. In a subset of FCGR3B*3-positive probands, PCR-amplified FCGR3 fragments were subcloned and sequenced. Transmission of FCGR3B*3 was analyzed in family studies. A possible correlation with the FcgammaRIIIb alloantigen expression was investigated by flow cytometry. RESULTS: In the northern German population, FCGR3B*3 was found exclusively in individuals carrying FCGR3B*1 independent of the existence of FCGR3B*2 at a frequency of 5 percent. In the individuals from Uganda, each possible combination of FCGR3B*1, FCGR3B*2, and FCGR3B*3 was detected. FCGR3B*3 frequency was 34.9 percent. Within both populations, some individuals carried each of the three genotypes. DNA sequencing revealed new FCGR3 variants caused by single nucleotide exchanges at the typical polymorphic positions. In one individual, six different FCGR3 variants were detected. CONCLUSION: The coincidence of the three known FCGR3B alleles varies within the population of Germany and Uganda. Three simultaneous FCGR3B forms may be explained by two gene loci, but the basis of the high number of different variants in some individuals still remains unclear. Possible explanations may be a hypermutation mechanism or a number of FCGR3 higher than expected hitherto.     

Allelic polymorphisms of human fcgamma receptor IIa and Fcgamma receptor IIIb among distinct groups in Brazil

BACKGROUND: The FcgammaRIIA gene is expressed in two polymorphic forms, R131 and H131, which differ by the replacement of histidine by arginine at position 131. The FCGR3B (FcgammaRIIIB) gene exists in two allelic isoforms, known as FCGR3B1 (FcgammaRIIIB-NA1) and FCGR3B2 (FcgammaRIIIB-NA2), which differ in nucleotides 141, 147, 227, 277, and 349. An additional polymorphism is the SH antigen that is associated with the FCGR3B3 (FcgammaRIIIB-SH) allele. STUDY DESIGN AND METHODS: By use of a PCR with allele-specific primers, the allelic polymorphisms of FcgammaRIIA and FcgammaRIIIB were determined among 263 unrelated Brazilian subjects, including Amazon Indians (n = 92), blood donors (n = 85), and patients with sickle cell disease (SCD) (n = 86). RESULTS: Amazon Indians had a significantly higher frequency of the R131 allele than did blood donors and SCD patients (0.91 vs. 0.55 vs. 0.55; p<0.001). NA1 and NA2 gene frequencies were found to be 0.67 and 0.21 for Amazon Indians, 0.58 and 0.42 for blood donors, and 0.61 and 0.39 for SCD patients, respectively. The FcgammaRIIIB-SH allele was absent from the Amazon Indians, but 9 (10.6%) blood donors and 10 (11.6%) SCD patients expressed this allele. CONCLUSION: Overall, the data indicate that the distribution of the FcgammaRIIIB alleles is significantly different in Amazon Indians from the distribution in Brazilian blood donors or African Brazilian patients with SCD, but that it is similar to the distributions reported in Asian populations. Moreover, the distribution of the FcgammaRIIA and FcgammaRIIIB alleles among Brazilian blood donors and SCD patients is comparable to the distributions reported in whites from the United States and Europe.     

Variations in genes encoding neutrophil antigens NA1 and NA2

BACKGROUND: Neutrophil-specific antigens NA1 and NA2 are located on Fcgamma receptor IIIb (FcgammaRIIIb). NA1 and NA2 forms of FcgammaRIIIb differ by four amino acids and the corresponding genes by five nucleotides. Variations in NA gene frequencies are encountered among ethnic groups. Altered forms of the genes are expected among individuals. STUDY DESIGN AND METHODS: RFLPs associated with four recognition sites were used to determine NA genotypes of 232 individuals. When atypical NA genotypes were identified, FcgammaRIIIB and FcgammaRIIIA regions were sequenced. RESULTS: NA1 FcgammaRIIIB frequency in 100 Japanese (0.66) was greater than that in 53 African Americans (blacks) (0.40; p<0.01) and 79 whites (0.32; p<0.001). Sequencing of atypical FcgammaRIIIB in 16 people confirmed that four blacks had G-->A substitutions at 227; 7 blacks had A-->G substitutions at 277; and 1 Japanese person had C-->G at 141 and G-->T at 227. A at 227 and G at 277 represent expected nts of NA1 FcgammaRIIIB. One black had an NA1 FcgammaRIIIB with a G-->A substitution at 349; A is normally found in NA2 FcgammaRIIIB at 349. Sequencing atypical FcgammaRIIIA in three persons revealed that two blacks had G-->A substitutions at 277 plus C-->A substitutions at 266 and 1 white had previously described T-->G at 230. Two blacks with atypical NA2 FcgammaRIIIB had T-->G FcgammaRIIIA at 230. One black was NA(null). CONCLUSION: NA2 FcgammaRIIIB is more polymorphic in blacks than in whites or Japanese persons. Chimeric FcgammaRIIIB alleles are most similar to NA2 FcgammaRIIIB. One alternate allele of NA1 (NA1*02) and four alternate alleles of NA2 (NA2*02, NA2*03, NA2*04, and NA2*05) are described.     

云南汉族血小板献血者HLA-A、B和HPA基因多态性的分析

目的研究云南地区汉族血小板献血者HLA-A、B基因和HPA1-17基因多态性,建立已知型血小板献血者基因数据库。方法分别采用PCR-SSOP和PCR-SSP方法对1 000名云南地区无血缘关系的汉族血小板献血者做HLA-A、B和HPA1-17系统基因分型,计算基因型频率、基因频率,并与其他人群进行比较。结果在云南地区人群中共检出HLA-A位点14个,HLA-B位点35个。A*02(35.81%)、A*11(35.42%)和A*24(17.72%)3个等位基因为云南汉族人群HLA-A座位的主要等位基因;B*46(12.87%)、B*40(60)(10.83%)和B*15(62)(9.78%)3个等位基因为云南汉族人群HLA-B座位的主要等位基因。每个样本均检测到HPA-1a、2a、4a-14a、16a、17a基因;HPA-4a、7a-14a、16a、17a呈现单态性,未检测出相应的等位基因HPA-b;对于HPA-1、2、5、6主要以a/a纯合子居多,a/a基因型频率分别是0.989、0.960、0.990、0.980,没有b/b纯合子出现。在HPA1-17中,具有最高杂合度的是HPA-15,基因型HPA15a/15a、HPA15a/15b、HPA15b/15b频率分别是0.392、0.360、0.248;HPA-3在其次,基因型HPA3a/3a、HPA3a/3b、HPA3b/3b频率分别是0.339、0.467、0.194。经χ2检验,结果符合Hardy-Weinberg遗传平衡定律。结论云南地区汉族血小板献血者HLA-A、B和HPA1-17基因频率与南方汉族接近,也呈现其自身特点。应建立本地区的血小板供者分型数据库。     

Gene frequencies of human platelet antigens 1-5 in indigenous Australians in Western Australia

The frequencies of human platelet antigen (HPA) systems vary between different racial groups; however, HPA frequency data for some racial groups are still incomplete. We report the distribution of HPA 1-5 systems in Australian Aborigines from a remote community in the north-west of Australia and compare our findings with HPA observed in a Western Australian blood donor population. Using a polymerase chain reaction (PCR) with sequence-specific primers, 185 indigenous Australians and 1000 Western Australian blood donors were genotyped for each of the HPA 1-5 systems. Comparison of gene frequencies of alleles from HPA-1, -2, -3 and -5 systems showed significant differences between Aboriginal people and Western Australian blood donors (P < 0.001). In particular, the frequency of HPA-3b (0.068) in the Australian Aboriginals, from this study, was one of the lowest reported, whilst the frequency of HPA-5b (0.246) was one of the highest for this allele. Gene frequencies were similar to those reported for central Australian Aborigines but with no other ethnic group. In conclusion, this study confirms significant differences in HPA distributions between indigenous Australians, Australian blood donors and other racial groups. These results indicate a higher potential risk of alloimmunization to HPA-1, -2 and -3 in Australian Aborigines receiving transfusion therapy from a Caucasian blood donor population, thereby having practical implications for transfusion and pregnancy risks in people of Aboriginal origin.     

Frequency of platelet-specific antigens among Chinese in Taiwan

The frequencies of six platelet-specific antigens among Chinese in Taiwan are reported, which have not previously been well studied. HPA- 1a (PlA1) antigen was positive in all 1100 Chinese tested. HPA-4b (Yukb) antigen was positive in all 100 persons tested. HPA-2b (Ko(a), Sib(a)) antigen was positive in 9 percent of 100 persons tested, HPA-3a (Bak(a)) in 77 percent, and NAKa in 96 percent. HPA-4a (Yuk(a)) antigen occurred in 0 percent in this study but is estimated to be present in 0.5 percent of the Taiwanese population.     

应用PCR—SSP方法进行人类血小板抗原1～6系统的基因分型

目的研究采用PCR—SSP技术，建立人类血小板抗原1．6系统（HPA—1，2，3，4，5，6）的基因分型方法。方法合成18条序列特异性引物，通过调节引物浓度、Mg^2＋离子浓度和探索最佳PCR扩增条件．建立HPA—1．6系统同步基因分型技术。对第10届及第11届国际输血协会（ISBT）血小板基因定型协作组送检的考核样本进行盲检来验证。并应用该技术对198名深圳地区健康的血小板志愿捐献者进行基因分型。结果应用本研究的方法，对第10届及第11届ISBT送检的考核样本进行基因分型，结果与ISBT公布的结果完全一致，符合率达100％。对198名随机的血小板志愿捐献者观察到的基因频率分别是：HPA—1a和1b为0．9924和0．0076，HPA-2a和2b为0．9545和0．0455，HPA-3a和3b为0．5556和0．4444，HPA-4a和4b为0．9975和0．0025，HPA-5a和5b为0．9848和0．0152，HPA-6a和6b为0．9798和0．0202。结论本研究建立的HPA基因分型技术具有简便、快速、准确的特点，适合于常规HPA基因分型，具有广泛的应用前景。     

Platelet alloantigens HPA-1, -2, -3, -5 and -6b in Finns

SUMMARY. The human platelet alloantigens HPA-1, -2, -3, -5 and -6b in the Finnish population were determined using allele specific restriction analysis (PCR-ASRA) for HPA-1, -2, -3 and -5 and monoclonal antibody immobilized platelet antigen (MAIPA) assay for HPA-1, -3a, -5b and -6b. No discrepancies were observed between the results obtained with the PCR-method and those obtained serologically. The gene frequencies obtained from 200 unrelated Finns were 0.86 and 0.14 for HPA-1a and -1b, 0.91 and 0.09 for HPA-2a and -2b, 0.59 and 0.41 for HPA.3a and -3b and 0.95 and 0.05 for HPA-5a and -5b. The frequency of the HPA-5b allele (10%) is lower in Finns than in Central- or South-European populations (20–30%). The HPA-1, -2 and -3 frequencies did not deviate from those observed in other European populations. The rare HPA-6b antigen was observed in three of 127 individuals from south-eastern Finland (2.4%), which suggests that the frequency of this allele in Finland is higher than previously thought.     

应用PCR—SSP法分析中国人血小板抗原基因型频率

本研究建立了在同一PCR反应条件下同时检测人血小板抗原（human platelet antigen,HPA）系统HPA-1到HPA-5的PCR-SSP检测法。应用该方法分析了110例健康献血员的HPA-1到HPA-5的基因型,并以此为依据推算了中国人HPA-1到HPA-5各亚型的基因频率。结果表明HPA-1a和HPA-1b的基因频率分别为0.91和0.09,HPA-2a和HPA-2的基因频率分别为0.86和0.14,HPA-3a和HPA-3b的基因频率分别为0.60和0.40,HPA-4a和HPA-4b的基因频率分别为0.92和0.08,HPA-5a和HPA-5b的基因频率分别为0.85和0.15。结论：基因组DNA的血小板抗原PCR-SSP分型法切实可行,可广泛应用于临床血小板抗原的分型。     

Frequency of human platelet antigens among blood donors in northeastern Thailand

BACKGROUND: Platelet transfusions have been widely used in Thailand, but little is known about the phenotyping of human platelet antigens. STUDY DESIGN AND METHODS: Whole blood was collected from 483 blood donors for preparation of platelets. An improved mixed passive hemagglutination assay was used for this study. RESULTS: Frequencies demonstrated were 100 percent for HPA-1a (PlA1), 15.94 percent for HPA- 2b (Siba), 60.25 percent for HPA-3a (Baka), 98.76 percent for HPA-4a (Yukb), 1.86 percent for HPA-4b (Yuka), 5.38 percent for HPA-5b (Br(a)), and 97.72 percent for Naka. CONCLUSION: HPA-1a was found in 100 percent of Thais, which is the same frequency as in other Asian populations but somewhat different from that in whites (97.9%). Therefore, HPA-1a will not cause neonatal alloimmune thrombocytopenia or post-transfusion purpura in Thais. According to the frequencies of HPA-2b, HPA-3a, HPA-4a, HPA-4b, HPA-5b, and Naka antigens, they may induce neonatal alloimmune thrombocytopenia, posttransfusion purpura, and platelet refractoriness in Thais.     

血小板输注无效患者血小板同种抗体及血小板特异性糖蛋白抗体表达的研究

目的 探讨血小板输注无效与血小板同种抗原或血小板特异性抗原的相关性.方法 选择65例临床确诊血小板输注无效患者作为研究对象,应用酶联免疫吸附实验(ELISA)方法检测血清、血小板洗脱液中血小板特异性抗体;应用HLA抗体特异性检测试剂盒,对组合反应性抗体(PRA)阳性的患者进行HLA抗体特异性分析;用HPA分型试剂盒检测8个血小板同种抗原系统HPA-1、2、3、4、5、6、9、15;用HLA分型试剂盒对HLA-A/B抗原进行基因分型.结果 65例患者HLA-A/B抗原,HPA-1、2、4、5、6、9、15抗原的基因频率分布与健康献血员比较差异无统计学意义.HPA-3a、3b抗原频率分别为0.65、0.35,与健康献血员比较差异有统计学意义(P＜0.05).65例患者中HLA抗体单独阳性24例(36.9%),HLA抗体和血小板特异性糖蛋白抗体共同阳性14例(21.5%);HLA抗体和血小板洗脱液特异性糖蛋白抗体共同阳性6例(9.2%),血小板洗脱液特异性糖蛋白抗体阳性13例(20%),HLA抗体、血小板特异性糖蛋白抗体及血小板洗脱液特异性糖蛋白抗体共同阳性4例(6.2%);HLA-A/B特异性抗体中,HLA-A*9抗体占全部抗体的46.2%,HLA-B*40抗体占33.6%.血清血小板特异性抗体以GPⅡb/Ⅲa为主(26.2%),其次为GP Ⅰa/Ⅱa(21.5%),血小板洗脱液中,血小板特异性抗体以GPⅡb/Ⅲa和GP Ⅰb/Ⅸ为主(41.5%).对2例患者进行了遗传学调查,发现产生的血小板特异性糖蛋白抗体和HLA抗体与父母血小板抗原及HLA抗原不相合呈密切相关.结论 血小板输注无效患者中,HLA抗体占主要地位,其次为血小板特异性糖蛋白抗体.     

河南汉族人群血小板抗原HPA1-16bw基因多态性研究

摘要：目的：研究河南地区汉族人群血小板抗原基因分布频率,建立地区性血小板抗原基因库,为血小板配合输注提供实验依据。 方法：用序列特异性引物聚合酶链反应（PCR-SSP）对160例无血缘关系的河南汉族体检健康者进行HPA1-16bw系统基因分型。 结果：HPA1-6和HPA-15基因频率分别为1a 0.987 5,1b 0.012 5; 2a 0.946 9,2b 0.053 1; 3a 0.590 6,3b 0.409 4; 4a 0.996 9,4b 0.003 1; 5a 0.990 6,5b 0.009 4; 6a 0.981 2,6b 0.018 8;15a 0.540 6,15b 0.459 4。 HPA7-14bw,16bw仅检测到a/a等位基因,基因频率均为1.000 0。经χ²检验各系统HPA符合Hardy-Weinberg平衡法则。HPA基因分布存在种族和地区差异。 结论:河南汉族人HPA-15 和HPA-3基因型杂合率最高。HPA基因分型有助于输注血小板时降低免疫性血小板减少症的发生概率。     

Gene frequencies of eight human platelet-specific antigens in Koreans

Human platelet-specific antigens (HPAs) are found on platelet membrane glycoproteins and are the target of platelet alloantibodies that mediate platelet destruction in neonatal alloimmune thrombocytopenia (NAIT), post-transfusion purpura (PTP) and refractoriness to platelet transfusion therapy. The biallelic polymorphism of all HPA systems is known to be due to a substitution of a single base pair. This study was performed to investigate the frequency of the HPA genes in Koreans, based on these substitutions. The genotypes of eight HPA systems were determined by polymerase chain reaction using sequence-specific primers (PCR–SSP) for HPA-1, -2, -4, -5, and -8 and restriction fragment length polymorphism (RFLP) for HPA-3, -6, and -7. The gene frequencies obtained from 200 unrelated Koreans were 0.99 and 0.01 for HPA-1a and -1b, 0.92 and 0.08 for HPA-2a and -2b, 0.55 and 0.45 for HPA-3a and -3b, 0.99 and 0.01 for HPA-4a and -4b, 0.98 and 0.02 for HPA-5a and -5b, and 0.98 and 0.02 for HPA-6a and -6b. All the individuals tested were homozygotes for HPA-7a and HPA-8a. It has been reported that the HPA-1b antigen is extremely rare (less than 0.3%) in Oriental populations, but this study suggests that the frequency of this antigen in Koreans (2.0%) is higher than in Japanese and Chinese populations.     

青岛地区汉族人群HPA-1—5,15多态性分布研究

目的研究青岛地区汉族人群人类血小板抗原(HPA)1-5,15抗原分布多态性。方法采用PCR-SSP方法对青岛地区918名无血缘关系固定血小板无偿捐献者进行HPA1-5及HPA-15系统的基因分型.结果各被检系统等位基因频率分别是1a=0.9940,1b=0.0060,2a=0.9319,2b=0.0681,3a=0.5822,3b=0.4178,4a=0.9897,4b=0.0104,5a=0.9804,5b=0.0196,15a=0.4913,15b=0.5087;HPA基因频率分布与国内资料比较,HPA-1与北方人群(河南),HPA-2与南方人群(四川)差异有统计学意义;与台湾人群HPA-2,-4,与日本人群HPA-2,-3,-5,与美国黑人HPA-1,-2,-5,与白人HPA-1,-4,-5,-15分别有统计学显著性差异。结论青岛地区汉族人群HPA分布具有本地人群特点。本组HPA数据分布符合Hardy-Weinberg平衡定律,可以作为北方汉族人群HPA基因分布频率数据库和青岛本地化血小板供者HPA资料库。     

Analysis of human platelet antigen systems in a Moroccan Berber population

The human platelet alloantigen systems HPA-1, -2, -3, -4, -5 and -6 in a Moroccan Berber population from the Amizmiz region were determined by polymerase chain reaction using sequence-specific primers (PCR-SSP). The gene frequencies obtained from these unrelated Berbers were 0 x 747 and 0 x 252 for HPA-1a and -1b; 0 x 817 and 0 x 182 for HPA-2a and -2b; 0 x 682 and 0 x 317 for HPA-3a and -3b; 1 and 0 x 0 for HPA-4a and -4b; 0 x 8616 and 0 x 1383 for HPA-5a and -5b; 1 and 0 x 0 for HPA-6a and -6b. The Berbers have the highest frequency for the 1b, 2b and 5b alleles of all the populations reported to date and also the lowest frequency for the 3b allele.     

广州地区无偿献血者HPA-1—6,15基因分型及频率调查

目的研究人类血小板基因多态性,为人类群体遗传学研究及临床输血实践提供重要数据和依据。方法通过PCR-SSP方法对广州地区706名无偿献血者的HPA1—6,15系统进行基因分型,并统计其频率。结果706份样本中HPA-3和-15基因型的杂合程度最高,其a/a、a/b、b/b的频率分别为HPA-3:0.2918、0.4830、0.2252;HPA-15:0.2691、0.5170、0.2139,不配合率较高,均达到35%以上。HPA-1、-2、-4、-5系统均以a/a纯合子为主,a基因的频率范围为0.9583—0.9993,且均未发现b/b纯合子。1b、4b的基因频率很低,分别为0.0028和0.0007。本地区的HPA-1a与中国北方、英国白人、美国黑人有统计学差异(P<0.05)。HPA-2与中国南方、北方、美国黑人和日本人有统计学差异(P<0.05);HPA-5与英国白人和美国黑人存在统计学差异(P<0.05)。HPA-6频率分别为0.9575,0.0397,0.0028。结论本研究对广州地区HPA献血员的筛查可为建立HPA供者库和对探讨由HPA引起的免疫性疾病的预防和治疗提供相关数据和研究手段。     

献血者血小板1-16抗原基因遗传多态性分析及已知HPA型供者数据库的建立

本研究的目的是分析人类血小板抗原（human platelet antigen,HPA）基因多态性,根据分布频率来判断HPA抗原不配合比率以及抗体产生的机会,确定有临床意义的血小板抗原系统,并建立邯郸地区血小板基因频率数据库和供者库.采用SSP-PCR方法对邯郸地区148名随机献血者进行HPA1-16抗原32个等位基因的检测分析,并与不同人群的分布频率进行比较.结果表明：每个样本均检测到HPA-1a、2a、4a-14a、16a基因;HPA-4a、7a-14a、16a呈现单态性,未检测出相应的等位基因HPA-b;对于HPA-1、-2、-5、-6主要以a/a纯合子为多,a/a基因型频率分别是0.9595、0.8108、0.9865、0.9797,没有b/b纯合子出现.在HPA1-16中,具有最高杂合度的是HPA-15,基因型HPA15a/15a、HPA15a/15b、HPA15b/15b频率分别是0.2230、0.5270、0.2500;HPA-3在其次,基因型HPA3a/3a、HPA3a/3b、HPA3b/3b频率分别是0.3851、0.5135、0.1014.经x2检验,结果符合Hardy-Weinberg遗传平衡定律.邯郸地区随机献血者HPA1-5系统基因频率与石家庄地区相似（P＞0.05）;与我国台湾人群进行HPA1-13、HPA-15的比较,HPA-1、-2、-6具有明显的不同（P＜0.05）,其它相似（P＞0.05）;与韩国人群进行HPA1-8的比较,除HPA-3具有明显不同外（P＜0.05）,其余均相似（P＞0.05）;与美国黑人进行HPA1-5的比较,HPA-1、-2、-5具有明显的差异（P＜0.05）;与英国人进行HPA1-11的比较,HPA-1、-5具有明显的不同（P＜0.05）.结论：北方地区中国人群HPA-2、-3、5、-15系统具有多态性,且HPA抗原分布不配合比率较高,这必然造成免疫暴露的机会增加,提示在临床上可能具有重要的免疫学意义.同时,在此次研究数据的基础上建立了邯郸地区血小板基因频率数据库和血小板已知型供者库.     

浙江汉族人群血小板抗原1-16多态性调查

目的了解浙江汉族人群血小板抗原1-16多态性分布。方法采用PCR-SSP方法对120份浙江无血缘关系汉族样本作HPA-1—16等位基因分型。结果HPA-1b、-2b、-3b、-6bw、-15b的基因频率分别为0.0125、0.0542、0.3833、0.0125、0.4833,未检出HPA-4b、-5b、-7bw、-8bw、-9bw、-10bw、-11bw、-12bw、-13bw、-14bw、-16bw等位基因。浙江汉族人群HPA-3、15抗原系统血小板随机输注错配概率分别为0.36、0.37。结论浙江汉族人群HPA多态性分布与中国其他地区汉族人群比较没有差异,HPA-3和15系统多态性较丰富,因此在随机血小板输注或胎母之间比较容易发生同种免疫反应。     

Genotyping of Eight Human Platelet Antigen Systems in Serbian Blood Donors: Foundation for Platelet Apheresis Registry

IntroductionThe aim of this study was to investigate the allele and genotype frequencies of 8 human platelet antigen (HPA) systems among blood donors from the Blood Transfusion Institute of Serbia and to compare them with published studies. These data would be useful to establish the basis for a platelet apheresis donor registry.Material and MethodsSeventy-two unrelated male platelet apheresis/blood donors from Serbia were typed for 8 HPA systems (HPA-1 to HPA-6, HPA-9, and HPA-15) via the FluoGene method, based on polymerase chain reaction-sequence-specific amplification (PCR-SSP; PCR using sequence-specific primers) with fluorometric signal detection. Allele and genotype frequencies were estimated by direct counting and compared to the expected genotype frequencies according to the Hardy-Weinberg principle. The transfusion mismatch probability was calculated for every HPA specificity.ResultsThe allele frequencies were: HPA-1a, 0.868; HPA-1b, 0.132; HPA-2a, 0.917; HPA-2b, 0.083; HPA-3a, 0.611; HPA-3b, 0.389; HPA-5a, 0.903; HPA-5b, 0.097; HPA-9a, 0.993; HPA-9b, 0.007; HPA-15a, 0.472; and HPA-15b, 0.528. For HPA-4 and HPA-6 only allele a was detected.DiscussionThe HPA allele frequencies of European populations showed no significant differences in comparison with our results. Statistically significant differences were revealed in comparison with some populations of non-European origin. In the tested donors no HPA-2 bb genotype was detected, but we found 1 donor with the rare HPA-9b allele. The biggest transfusion mismatch probability in the Serbian population is for systems HPA-15 (37.4%) and HPA-3 (36.2%), which means that more than a third of random transfusions could cause mismatch in these systems. This study was enabled by the introduction of molecular HPA typing, and it provides initial results of the HPA allele and genotype frequencies in the population of blood donors in Serbia. They will be used to provide a compatible blood supply on demand for treating patients with alloimmune thrombocytopenic disorders. The successful implementation of PCR-SSP with fluorometric signal detection could be further complemented in the future by the introduction of high-throughput methods, which will largely depend on the available financial resources.     

广州地区汉族人群HNA-1基因频率分布的研究

目的了解广州地区汉族人群HNA-1基因的多态性及频率分布情况。方法采用序列特异性引物-聚合酶链反应(PCR-SSP)对150名广州地区汉族健康献血者作HNA-1基因分型,计算HNA-1等位基因频率并进行Hardy-Weinberg平衡检验;将结果与国内外部分数据比较。结果广州地区汉族人群HNA-1a、1b等位基因频率分别为0.713、0.287,未发现HNA-1c等位基因;人群基因型以HNA-1aa(50%)纯合子和HNA-1ab(43%)杂合子为主要表达形式;广州地区汉族人群HNA-1基因频率与浙江汉族、西藏藏族、大连汉族、西北回族、日本、韩国、德国、西班牙人群比较差异具有统计学意义(P<0.05)。结论得出了广州地区汉族人群HNA-1的基因频率的分布情况,为临床上相关疾病的诊治和预测提供一定的实验数据基础。