Tumor-Specific Histo-Blood Group Antigens: Apropos of Two Cases

Cancer cells with immunogenic properties having altered protein glycosylation, modified blood group substances have been widely studied. Due to the genetic instability occurring during carcinogenesis the glycosyltransferases may suffer from posttranslation sequence modification. The author describes 2 autopsy cases, where in the background of the unusual metastatic tumor presentation, incompatible blood group antigenic determinants have been demonstrated using blood group specific lectins and monoclonal antibodies (mAb). In the first case, reported here, a 10-year-old girl developed an acute myeloid leukemia and died in a septic endotoxin shock after successful cytostatic treatment of a juvenile signet ring cell cancer of her colon. At autopsy there were no signs of tumor except bilateral apple-sized mucinous ovarian (Krukenberg) metastases. While she had erythrocyte phenotype of blood group A, the signet ring adenocarcinoma cells expressed blood group B incompatible antigenic determinants with lectin/mAb. In the second case, the autopsy of a 78-year-old female resulted in no macroscopic tumor sign except a moderately enlarged, ham hard spleen. Light microscopy revealed adenocarcinomatous infiltration in the splenic sinusoids. The patient had blood group O, while the metastatic cells in the spleen reacted with Breast Carcinoma Antigen (BioGenex) and incompatible anti-B Banderiaeasimplicifolia agglutinin I and anti-B mAb. It proved to be a case of an occult, completely regressed breast cancer. Based on these observations the expression of tumor specific incompatible blood group antigens might occur from time to time, mostly in adenocarcinomas. Accordingly, blood group-based specific immuno-oncotherapy could be considered in some cancer cases.

Clinical significance of the detection of Rh blood group antigens and irregular antibodies in pregnant women with a second pregnancy

Objective:To investigate the phenotype distribution of five antigens of Rh blood group system and the specificity of Rh blood group irregular antibodies in pregnant women with second child.To analyze the relationship between Rh blood group antibody and hemolytic disease of the newborn(HDN)in second-child pregnant women,and to provide laboratory basis for the diagnosis and treatment of hemolytic disease of the newborn(Rh-HDN).Methods:500 pregnant women with second child were collected as the study group and 500 pregnant women with first pregnancy as the control group(all pregnant women underwent obstetric examination in the integrated obsteric clinic of our hospital from January 2020 to January 2021).To detectethe Rh blood group antigens(D,C,c,E,e)of the two groups of samples,screene the irregular antibodies,identify the specificity of irregular antibodies,determine the titer and record the hemolytic disease of the newborn of pregnant women with positive Rh blood group antibodies.Results:There were 11 Rh phenotypes in the pregnant women with second child in the study group:CCDee(152cases,30.4%),CcDEe(136cases,27.2%)CcDee(84cases,16.8%),ccDEE(30cases,6%),ccDee(31cases,6.2%),CCDEe(14cases,2.8%),ccDEe(9cases,1.8%),cc dee(18cases,3.6%),CCDEE(2cases,0.4%),CcdEe(12cases,2.4%),Ccdee(6cases,1.2%),CCd ee(6cases,1.2%).A total of 42 cases(8.4%)in the pregnant women with second child were negative for RhD.There were 10 Rh phenotypes in the pregnant women with first pregnancy in the control group:CCDee(144cases,28.8%),CcDEe(138cases,27.6%),CcDee(90cases,18%),ccDEE(42cases,8.4%),ccDee(28cases,5.6%),CCDEe(10cases,2%),ccDEe(8cases,1.6%),cc dee(19cases,3.8%),CCDEE(1cases,0.2%),CcdEe(11cases,2.2%),Ccdee(9cases,1.8%).A total of 39 cases(7.8%)in the pregnant women with first pregnancy were negative for RhD.In the pregnant women with second child in the study group,the positive rate of irregular antibody screening was 4.0%(20/500),and the specificity of Rh blood group antibodies was found as follows:anti-E 1.8%(9/500),anti-D 1.4%(7/500),anti-C 0.4%(2/500)and anti-Ec 0.4%(2/500).The positive rate of irregular antibody screening in the pregnant women with first pregnancy in the control group was 0,and the difference between the two groups was statistically significant(P<0.05).Rh-HDN was found in 10 newborns(2%)of the 20 women with positive irregular antibodies in the pregnant women with second child,and the antibody titer during pregnancy was more than 32.No Rh-HDN occurred in newborns in the pregnant women with first pregnancy,and the difference between the two groups was statistically significant(P<0.05).Conclusion:Pregnancy stimulation can increase the probability of irregular antibodies in pregnant women,and irregular antibodies in Rh blood group can easily cause Rh-HDN,so attention should be paid to routine detection of five antigens of Rh blood group and irregular antibody screening during prenatal examination.It is helpful for the early detection of Rh-blood irregular antibodies and the assessment of fetal or neonatal risk of Rh-HDN.

Histo-blood group antigens in Crassostrea gigas and binding profiles with GⅡ.4 Norovirus

Noroviruses(NoVs) are the main cause of viral gastroenteritis outbreaks worldwide, and oysters are the most common carriers of NoV contamination and transmission. NoVs bind specifically to oyster tissues through histo-blood group antigens(HBGAs), and this facilitates virus accumulation and increases virus persistence in oysters. To investigate the interaction of HBGAs in Pacific oysters with GⅡ.4 NoV, we examined HBGAs with ELISAs and investigated binding patterns with oligosaccharide-binding assays using P particles as a model of five GⅡ.4 NoV capsids. The HBGAs in the gut and gills exhibited polymorphisms. In the gut, type A was detected(100%), whereas type Leb(91.67%) and type A(61.11%) were both observed in the gills. Moreover, we found that seasonal NoV gastroenteritis outbreaks were not significantly associated with the specific HBGAs detected in the oyster gut and gills. In the gut, we found that strain-2006 b and strain-96/96 US bound to type A and H1 but only weakly bound to type Leb; in contrast, the Camberwell and Hunter strains exhibited weak binding to types H1 and Ley, and strain-Sakai exhibited no binding to any HBGA type. In the gills, strain-96/96 US and strain-2006 b bound to type Leb but only weakly bound to type H1; strains Camberwell, Hunter, and Sakai did not bind to oyster HBGAs. Assays for oligosaccharide binding to GⅡ.4 NoV P particles showed that strain-95/96 US and strain-2006 b strongly bound to type A, B, H1, Leb, and Ley oligosaccharides, while strains Camberwell and Hunter showed weak binding ability to type H1 and Ley oligosaccharides and strain-Sakai showed weak binding ability to type Leb and Ley oligosaccharides. Our study presents new information and enhances understanding about the mechanism for NoV accumulation in oysters. Further studies of multiple NoV-tissue interactions might assist in identifying new or improved strategies for minimizing contamination, including HBGA-based attachment inhibition or depuration.

Blood group type antigens in pancreatic intraductal papillary mucinous neoplasms

BACKGROUND: There are few data on blood group(BG) types and types of pancreatic cancers. The aims of this study were to study BG types and BG-antigens in pancreatic intraductal papillary mucinous neoplasms(IPMNs). METHODS: BG type and tumor BG-antigen(glycoprotein) expression(studied by immunohistochemistry on tissue microarrays) were analyzed with regard to characteristics of 101 surgically resected pancreatic IPMNs. RESULTS: Non-O BG type predicted invasive carcinoma independently from high serum CA19-9 and male gender. BG type A was observed more frequently in women than in men. Chronic pancreatitis was more frequently seen in patients with BG type B or AB. Aberrant tumor expression(with regard to BG type) of loss of A antigen expression type occurred in 15.0% of IPMNs and of loss of B antigen expression type in 62.5% of IPMNs. Intraneoplasm BG-antigen expression was not related to dysplasia grade or invasion. CONCLUSION: The results of the study suggest that in pancreatic IPMN, non-O BG type predicted invasive carcinoma, whereas for intratumor BG-antigen expression no specific patterns were detected with regard to the progression of glandular epithelial dysplasia or invasion.

Identification and Characterization of Peptide Mimics of Blood Group A Antigen

In order to investigate peptide mimics of carbohydrate blood group A antigen, a phage display 12-mer peptide library was screened with a monoclonal antibody against blood group A antigen, NaM87-1F6. The antibody-binding properties of the selected phage peptides were evaluated by phage ELISA and phage capture assay. The peptides were co-expressed as glutathione S-transferase （GST） fusion proteins. RBC agglutination inhibition assay was performed to assess the natural blood group A antigen-mimicking ability of the fusion proteins. The results showed that seven phage clones selected bound to NaM87-1F6 specifically, among which, 6 clones bore the same peptide sequence, EYWYCGMNRTGC and another harbored a different one QIWYERTLPFTF. The two peptides were successfully expressed at the N terminal of GST protein. Both of the fusion proteins inhibited the RBC agglutination mediated by anti-A serum in a concentration-dependent manner. These results suggested that the fusion proteins based on the selected peptides could mimic the blood group A antigen and might be used as anti-A antibody-adsorbing materials when immunoabsorption was applied in ABO incompatible transplantation.

Relationship of A，B，H blood group antigens with pathomorphological grading and prognosis of transitional－cell carcinoma of th

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Blood groups, hemoglobin phenotypes and clinical disorders of consanguineous Yansi population

AIM:To study frequency of blood groups,prevalence of sickle-cell anemia trait and glucose-6-phosphate dehydrogenase deficiency(G6PD),among consanguineous Yansi tribe.METHODS:A total of 525 blood samples were collected,of which 256 among the Yansi population,and269 for the unrelated control group in the Bandunduprovince of Democratic Republic of Congo.Blood group antigens were determined in the following systems:ABO,Rh,Kell,Duffy,Kidd and MNS.Blood grouping and extended phenotype tests were performed according to standard immunohematological procedures.Spot tests and tandem mass spectrometry were used respectively for the assessment of G6PD and sickle-cell anemia trait.RESULTS:The frequency of ABO phenotypes conformed to the following order O>A>B>AB with notably 62.5%,23.8%,12.1%and 1.6%for the Yansi,and 54.6%,27.5%,14.1%and 3.7%for the unrelated control group,respectively(P=0.19).As for the Rh phenotypes,the most frequent were cc D.ee,cc D.Ee,Cc D.ee,corresponding to 71.5%,12.1%and 12.1%for the Yansi,and 70.6%,15.6%and 8.2%,for the unrelated control group(P=0.27).The frequency of MN and Ss phenotypes were statistically different between groups(P=0.0021 and P=0.0006).G6PD was observed in 11.3%of subjects in the Yansi group,and in 12.4%of controls(P=0.74).The sickle-cell anemia trait was present in 22.4%of Yansi subjects and 17.8%in the control group(P=0.24).Miscarriages and deaths in young age were more common among Yansi people.CONCLUSION:This study shows a significant difference in MNS blood group distribution between the Yansi tribe and a control population.The distribution of other blood groups and the prevalence of hemoglobinopathies did not differ in the Yansi tribe.

GI.5和GII.4诺如病毒P蛋白的克隆表达及与长牡蛎类HBGAs的结合特性

为明确人诺如病毒(human norovirus,HuNoV)与长牡蛎类组织血型抗原(histo-blood group antigens,HBGAs)的结合特性,本实验运用大肠杆菌表达系统,克隆表达了基因簇I.5(genogroup I.5,GI.5)和GII.4 HuNoV P蛋白,采用酶联免疫吸附测定研究HuNoV P蛋白与唾液HBGAs和长牡蛎类HBGAs的结合特性。结果表明,GII.4 HuNoV与唾液A型、B型、AB型和O型HBGAs均有较好的结合,而GI.5 HuNoV与B型HBGAs结合较弱,与O型HBGAs具有明显的结合优势。GI.5和GII.4 HuNoV在长牡蛎鳃、消化腺和外套膜中均可富集,其中在消化腺中富集最多,二者主要与类A型和H1型HBGAs结合,GII.4HuNoV与类Lea型、Leb型、Lex型和Ley型HBGAs有不同程度的结合,而GI.5 HuNoV与类Leb型HBGAs仅微弱结合,与类H1型HBGAs具有明显结合优势。综上,不同型别HuNoV与HBGAs的结合特性不尽相同,GII.4HuNoV具有广谱结合特性,GI.5HuNoV具有选择结合特性。

血液病患者异基因造血干细胞移植后Rh血型转变研究

目的检测血液病患者造血干细胞移植(HSCT)前供、受者及移植后患者的Rh血型抗原C、c、E、e,探究受者Rh血型抗原转变为供者Rh血型抗原C、c、E、e转变时间与过程。方法收集HSCT前供、受者以及移植后患者的抗凝全血标本,用微柱凝胶卡检测ABO血型、Rh血型,统计分析并比较ABO、Rh血型抗原转变与时间。结果排除红细胞输注的影响,58例HSCT患者Rh血型抗原C、c、E、e完全转变为供者的Rh血型抗原所需时间为(57.81±8.99)d,患者的年龄和血液病种类影响Rh血型抗原转换时间,性别、移植方式和供受者ABO血型相合性对Rh抗原转变时间无影响。移植后第3周部分患者开始出现少量供者红细胞,第4周开始检测到混和嵌合状态,第7~10周Rh血型抗原完全转变。此外,比较25例供、受者ABO血型和Rh血型均不相同的HSCT患者的Rh血型抗原转变时间和ABO血型转变时间,Rh血型抗原转变时间较ABO更短,差异具有统计学意义。结论定期检测HSCT患者移植后Rh血型抗原可以作为辅助判断移植效果的指标之一,对HSCT患者移植后输注Rh血型相容性的红细胞具有指导意义。

E．coli O86 O-Antigen全保护五糖重复单元的化学简易合成

以5个单糖组分为原料,经过7步,以21%的总产率得到E.coliO86抗原全保护的五糖重复单元.在合成路线中,充分利用糖基化反应的立体选择性原则,结合HClO4-SiO2固体催化剂和"IP"策略,大大提高了合成的效率.整个合成路线设计操作简单,选择性高,消耗低,产率高,可以用于快速高效地合成其它一些具有生物活性的寡糖分子.

广西地中海贫血患者同种异体免疫发生情况分析

目的调查广西长期反复输血的地中海贫血患者同种异体免疫发生率,并鉴定同种异体抗体特异性,为临床完善输血策略、提高患者生存质量提供依据。方法利用地中海贫血管理系统,收集2017-01/2022-06月在作者医院进行输血治疗的1115例患者的资料,统计同种异体抗体阳性发生率,比较不同类型地中海贫血、民族、性别、年龄段以及同种异体抗体阳性发生率,比较不同类型地中海贫血抗体阳性和阴性患者的年龄、Hb水平,对地中海贫血抗体阳性患者抗体进行特异性鉴定。结果1115例地中海贫血患者中有92例(8.25%)抗体筛查阳性。对比重型β地中海贫血(beta-thalassemia major,β-TM)、血红蛋白H病(hemoglobin H disease,HbH),中间型β地中海贫血(beta-thalassemia intermedia,β-TI)的抗体阳性发生率最高;女性抗体阳性发生率高于男性;年龄>20岁患者的抗体阳性发生率最高。β-TM、β-TI、HbH患者中抗体阳性患者的年龄均明显高于抗体阴性患者(P<0.05)。β-TM患者中抗体阳性患者Hb水平低于抗体阴性患者(P<0.05)。地中海贫血抗体阳性患者Rh血型系统抗体及其合并其他抗体占73.92%(68/92),抗-Mur抗体及其合并其他抗体占8.70%(8/92),抗-JK~a、抗-JK~b抗体及其合并其他抗体占7.61%(7/92)。结论反复输血的广西地中海贫血患者,有较高的同种异体抗体阳性发生率,Rh血型系统抗体阳性最多。β-TI患者、汉族患者、女性患者和年龄大于20岁患者更易发生同种异体免疫反应。

38例ABO血型抗原表达异常的基因分析

目的探讨ABO血型抗原表达减弱的血清学结果与基因多态性的关系。方法采用盐水试管法对38例ABO血型抗原表达异常标本进行ABO血型血清学鉴定及不规则抗体筛查。对ABO基因采用特异性序列引物聚合酶链反应(PCR-SSP)及第1~7外显子直接测序进行基因分型并比对。结果38例标本中共检出ABO等位基因18个,其中常见的等位基因15个,罕见的等位基因1个(Bw30/O01)及新等位基因2个。常州地区ABO基因多态性主要以A102/B101、A307/O02及Bw03为主,其中A102/B101占18.4%(7/38)、A307/O02占15.8%(6/38)、Bw03占7.9%(3/38)。另外发现3例突变型组合(B310/O01、Ax24/B101、Bw30/O01)及2例新突变位点(1036A>C、873C>T);5例突变均未被ISBT数据库收录。结论ABO亚型分子遗传在常州地区具有丰富的基因多态性,并发现3例突变型组合未收录和2例新突变位点未收录。新突变位点为ABO亚型突变发生机制研究提供样本来源,为精准输血提供参考。

RhD双群患者的血清学及分子生物学分析--附1例报道

目的对1名配血困难的RhD双群(double population,DP)患者进行血清学及分子生物学分析,解决其RhD血型鉴定及临床用血问题。方法用毛细管离心法分离患者红细胞,对近心端、远心端红细胞分别进行ABO和Rh血型鉴定,以及直接抗人球蛋白试验;对患者血浆进行不规则抗体筛选及鉴定以及交叉配血试验;采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)检测RHD基因合子型,采用序列特异性聚合酶链反应(PCR-SSP)进行RHD和RHCE基因型检测。结果血型鉴定的结果显示该患者血型为B型,RhD及RhCE的c和E血型抗原均为DP,直抗阳性,抗体筛查及鉴定结果显示血浆中含有抗-D;PCR-RFLP结果显示该患者RHD基因盒子型为D-/D-纯合子,即为RHD编码基因缺失型所致的RhD阴性;PCR-SSP的结果也显示该患者RHD编码基因外显子均缺失,RHD基因型为RHD*01N.01/01N.01,RHCE基因型为Ccee。结论本例患者在急救情况下输注了RhD阳性血液,之后被误判为RhD阳性血型,实则为RhD阴性血型。本中心在血型鉴定为DP时,利用分子生物学方法对患者进行了Rh血型准确鉴定,为该患者的精准临床用血提供了依据。

20354名青岛地区人群K抗原血清学筛选结果

目的对青岛地区人群进行K抗原血清学筛查,并分析结果。方法选取2023年3—6月在本院就诊并申请血型鉴定的患者标本16201份,及同期输血科发往临床的献血者标本4153份为研究对象,使用Rh/K抗原微柱凝集卡做Rh及Kell血型K抗原检测。结果16201份患者标本中共筛出K抗原阳性18份,4153份献血者标本中共筛出K抗原阳性8份,青岛地区K抗原阳性率为0.1277%。结论青岛地区人群中有K抗原存在,且K抗原阳性频率与以往的报道有所不同,提示应构建本地区稀有血型库,对该人群制定正确的献血及输血策略,对于避免Kell血型系统不规则抗体的产生,预防新生儿溶血病及保证临床用血安全具有重要意义。

筛选获得的血型抗原结合黏附素(BabA)适配子可阻断幽门螺杆菌(H.pylori)在小鼠胃内的定植

目的 探索核酸适配子特异性结合幽门螺杆菌(H.pylori)血型抗原结合黏附素(BabA)对H.pylori宿主细胞黏附的阻断作用。方法 培养H.pylori菌株并提取基因组,并设计引物PCR扩增BabA基因,扩增获得的BabA基因克隆、构建至原核表达质粒,异丙基-β-D-硫代半乳糖苷(IPTG)诱导表达并纯化后作为靶标,利用指数富集的配体系统进化技术(SELEX)筛选能够特异性结合BabA的单链脱氧核苷酸(ssDNA)适配子;酶联寡聚核苷酸吸附试验(ELONA)法检测并评估候选适配子的特征;随后在体外细胞水平和小鼠感染模型中,分别采用流式细胞术和菌落计数验证ssDNA适配子阻断H.pylori黏附的效果,同时利用ELISA检测小鼠胃黏膜细胞匀浆中白细胞介素6(IL-6)、 IL-8、肿瘤坏死因子α(TNF-α)、 IL-10和IL-4的水平。结果提取H.pylori ATCC 43504基因组并构建了pET32a-BabA质粒,诱导后并纯化重组蛋白相对分子质量(Mr)约为39 000;经肽指纹图谱(PMF)分析其与BabA蛋白一致;以此为靶标运用SELEX筛选获得5个候选适配子,经分析鉴定适配子A10、 A30和A42识别相同位点,A3和A16与上述三个适配子各自识别不同的位点。适配子体外能够显著阻断H.pylori的黏附,且动物模型实验证明适配子经灌胃处理后,对胃黏膜的H.pylori定植有阻断效果,且能够减轻诱导的炎症反应,适配子治疗组胃黏膜匀浆中IL-4、 IL-6、 IL-8和TNF-ɑ水平低于模型组。结论 适配子特异性结合BabA封闭H.pylori与胃黏膜上皮细胞的黏附能够阻断H.pylori在胃黏膜的定植。

温州苍南地区122例畲族MNS血型抗原和基因频率调查

目的:探讨温州苍南地区畲族人群MNS血型系统抗原和基因频率分布情况。方法:收集2021年10月至2022年4月温州医科大学附属苍南医院苍南地区122例畲族人群基本信息及外周血样,采用血清学方法鉴定MNS表现型,荧光聚合酶链反应-序列特异性引物法对MNS基因分型进行检测。结果:温州苍南地区畲族人群的MNS血型血清学定型与基因型结果一致。MNS血型系统的基因频率分别为:M=0.566、N=0.434、S=0.037、s=0.963。基因型MM、MN、NN的频率分别为0.254、0.123、0.623,基因型ss、Ss的频率分别为0.926、0.074,未检测到SS基因型。结论:温州苍南地区畲族人群MNS血型基因频率分布与报道的藏族、汉族其他人群分布相似又有差异,具有自身分布频率特点。

SMIM1在Vel血型、肿瘤和疟原虫感染中的研究进展

小整合膜蛋白1(small integral membrane protein 1,SMIM1)基因编码Vel血型抗原,其外显子3中17个碱基对纯合缺失导致Vel抗原阴性。Vel阴性是稀有表型,对其准确鉴定对预防输血反应尤为重要。SMIM1蛋白除作为Vel血型抗原外,近年来生物信息学分析提示SMIM1可能是1种新的肿瘤标志物,参与众多肿瘤的发生发展。由于SMIM1蛋白与糖蛋白有类似结构,且在感染恶性疟原虫的红细胞中被磷酸化,推测SMIM1蛋白可能参与了疟疾的发展。因此,本文就近年来SMIM1和其编码蛋白在Vel血型、肿瘤和疟原虫感染方面的相关研究做一综述。

Rh血型系统抗原检测在受血者输血治疗中的应用效果

目的:探讨Rh血型系统抗原检测在精准输血中的价值。方法:94例需输血治疗的患者分为对照组和观察组,每组47例。受血者E抗原阴性、供血者E抗原阳性为对照组;受血者、供血者E抗原均为阴性者为观察组。分析两组免疫功能指标、不良反应。结果:对照组输血后第3天的免疫球蛋白M(IgM)水平高于输血前,CD^(+)_(3)细胞、CD^(+)_(4)细胞占比低于输血前;对照组输血后第3天的IgM、白介素-2(IL-2)水平高于观察组,CD^(+)_(3)细胞、CD^(+)_(4)细胞占比低于观察组,差异有统计学意义(P<0.05);对照组不良反应发生率17.02%高于观察组6.26%(P<0.05)。结论:基于Rh血型系统抗原检测的精确输血可减少输血对机体免疫系统的干扰,降低输血不良反应发生风险。

孝感地区受血者Rh血型系统抗原分布及Rh血型相容性输注可行性探讨

目的:分析孝感地区部分输血治疗患者Rh血型系统主要抗原表型分布比例,探讨本地区Rh血型系统相容性输注的可行性。方法:微柱凝胶法检测2019年7月至2023年2月孝感市第一人民医院输血治疗中的1835例患者的红细胞Rh血型系统D、C、c、E、e抗原,计算Rh抗原表型的抗原频率及表型分布。于2021年10月1日选择对输血患者进行Rh同型或相容性输注。结果:1835例输血治疗患者共检出13种表型。抗原频率:D抗原为99.6%,C抗原为91.3%,c抗原为53.9%,E抗原为45.6%,e抗原为94.45%。对输血患者进行Rh相容性输注后,Rh血型系统产生的不规则抗体阳性率由1.77%(25/1414)下降至0.82%(12/1456),输血治疗患者的平均住院时间由6.6天减少至4.3天;Rh血型相容性输注前、后红细胞计数和血红蛋白水平的差异有统计学意义(P<0.05)。讨论:对供血者常规检测Rh系统血型,建立孝感地区Rh血型表型数据库,对需要输血的患者进行相容性输注,对输血安全和输血效果具有重要的临床意义。

中国新疆维吾尔族人群MNS、Duffy和Kel等稀有血型的基因分子遗传分析

背景:欧、美、日等都先后实施和完成了相关的稀有血型筛选项目,但国内还有较大差距,研究主要集中在南方地区汉族人群,对新疆地区维吾尔族人群稀有血型基因频率用PCR-SSP方法进行系统研究的报道较少。目的:探讨新疆维吾尔族人群红细胞MNS、Duffv、Kell、Dombrock、Diego、Kidd、Scianna、Colton和Lutheran血型系统基因频率分布情况,为人类群体遗传学及临床科学调配合适血液提供战略支撑。方法:采用PCR-SSP法对158名新疆维吾尔族人群9个稀有血型系统进行基因分型和统计学分析。结果与结论:新疆维吾尔族人群9个稀有血型基因频率依次为M=0.579 1,N=0.420 9,S=0.174 3,s=0.800 9,Fy^a=0.699 4,Fy^b=0.300 6,K1=0.015 8,K2=0.984 2,Do^a=0.234 2,Do^b=0.765 8,Di^a=0.047 4,Di^b=0.952 6,JK^a=0.541 2,JK^b=0.4526,Sc1=1.000,Sc2=0,co^a=0.994,Co^b=0.005 9,Lu^a=0,Lu^b=1.000,Au^a=0.810 2,Au^b=0.189 9,用χ~2检验比较基因型分布的观察值与期望值符合Hardy-Weinberg平衡法则(P>0.05),且发现维族人群MNS血型系统基因表现型罕见存在S^-s^-4例频率为0.025 3,Jk^(a-b-)1例频率为0.006 3。结果表明新疆维吾尔族人群MNS、Duffy、Dombrock和Diego 4种血型系统频率分布与其他种族明显不同,具有独特的自身分布频率特点;Kell、Kidd和Colton基因分布与报道的藏族、汉族其他人群分布相似又有差异;Scianna和Lutheran呈单态性分布,与藏族、汉族其他人群分布特点相同。该成果对探讨新疆维吾尔族人群起源进化、民族血液学研究以及稀有血型库的建设等方面提供了基本数据,具有重要意义。