ABO

ABO
  • 文章类型: Journal Article
    越来越多的证据表明,ABO血型可能在COVID-19感染的免疫发病机制中起作用。除了ABO血型,恒河猴(Rh)因子也与各种疾病过程有关。因此,我们的研究旨在评估COVID-19危重患者ABO和Rh血型与临床结局之间的关系.
    2020年3月1日至2021年7月31日在沙特阿拉伯进行的一项多中心回顾性队列研究,涉及入住重症监护病房的成年COVID-19患者,旨在探讨恒河猴血型类型(阳性与阴性)与临床结局之间的潜在关联。评估的主要终点是住院时间(LOS)。其他终点被认为是次要的。
    在倾向得分匹配(3:1比率)之后,最终分析中包括212例患者。与Rh阳性组相比,Rh阴性组的住院时间更长(β系数0.26(0.02,0.51),p=0.03)。然而,30天死亡率(HR0.28;95%CI0.47,1.25,p=0.28)和住院死亡率(HR0.74;95%CI0.48,1.14,p=0.17)均无统计学意义.此外,在不同的ABO类型中,A+血型表现出较高比例的血栓形成/梗塞和院内死亡率(28.1%和31.2%,分别)。
    这项研究强调了血型对COVID-19危重患者预后的潜在影响。据观察,Rh血型阴性的患者往往有更长的住院时间,虽然他们在ICU住院期间的死亡率和并发症与Rh阳性组患者相似。
    UNASSIGNED: There is increasing evidence suggesting that ABO blood type may play a role in the immunopathogenesis of COVID-19 infection. In addition to ABO blood type, the Rhesus (Rh) factor has also been implicated in various disease processes. Therefore, our study aimed to assess the association between both ABO and Rh blood types in critically ill patients with COVID-19 and their clinical outcomes.
    UNASSIGNED: A multicenter retrospective cohort study conducted in Saudi Arabia between March 1, 2020, and July 31, 2021, involving adult COVID-19 patients admitted to Intensive Care Units, aimed to explore potential associations between rhesus blood group types (Positive versus Negative) and clinical outcomes. The primary endpoint assessed was the hospital length of stay (LOS). Other endpoints were considered secondary.
    UNASSIGNED: After propensity score matching (3:1 ratio), 212 patients were included in the final analysis. The hospital length of stay was longer in a negative Rh blood group compared with patients in the Rh-positive group (beta coefficient 0.26 (0.02, 0.51), p = 0.03). However, neither 30-day mortality (HR 0.28; 95% CI 0.47, 1.25, p = 0.28) nor in-hospital mortality (HR 0.74; 95% CI 0.48, 1.14, p = 0.17) reached statistical significance. Additionally, among the different ABO types, the A+ blood group exhibited a higher proportion of thrombosis/infarction and in-hospital mortality (28.1% and 31.2%, respectively).
    UNASSIGNED: This study highlights the potential impact of blood group type on the prognosis of critically ill patients with COVID-19. It has been observed that patients with a negative Rh blood group type tend to have a longer hospital stay, while their mortality rates and complications during ICU stay are similar to the patients with a Rh-positive group.
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  • 文章类型: Journal Article
    背景:沙特阿拉伯的妊娠期糖尿病(GDM)患病率高于大多数其他国家。关于GDM风险因素的数据很少,特别是在怀孕初期对糖尿病进行积极的筛查。
    目的:本研究的目的是确定最初筛查GDM阳性的孕妇中确诊GDM的患病率。以及确定它与年龄的关系,国籍,和临床危险因素。
    方法:这项病例对照研究是在吉达的三级转诊中心进行的,沙特阿拉伯。它包括在2019年1月至2022年12月期间在50g口服葡萄糖耐量试验(OGTT)测试呈阳性后转诊的孕妇。随后,他们在我们中心接受了75g或100g验证性OGTT。比较了确诊GDM患者(病例)和确诊OGTT阴性患者(对照)的社会人口统计学和临床特征。
    结果:大多数参与者(75.4%)已确认GDM。然而,病例和对照组在年龄方面没有显着差异,国籍,或临床或妊娠相关因素。值得注意的是,该队列的特征是高妊娠率和高产次,这可能表明对GDM的易感性。
    结论:研究结果支持50gOGTT用于筛查GDM高危孕妇。此外,高妊娠率和均等率也可能是GDM的危险因素,保证对GDM进行更密切的监测,并在沙特阿拉伯等高出生人口中进行进一步研究。
    BACKGROUND:  Saudi Arabia has a higher rate of gestational diabetes mellitus (GDM) than most other countries. There is a paucity of data on the risk factors for GDM, particularly positive screening for diabetes in the initial period of pregnancy.
    OBJECTIVE:  The aim of this study was to determine the prevalence of confirmed GDM in pregnant women who initially screened positive for GDM, as well as to identify its association with age, nationality, and clinical risk factors.
    METHODS:  This case-control study was conducted retrospectively at a tertiary referral center in Jeddah, Saudi Arabia. It included pregnant women who were referred between January 2019 and December 2022 after having tested positive on a 50 g oral glucose tolerance test (OGTT). They subsequently underwent a 75 g or 100 g confirmatory OGTT at our center. The sociodemographic and clinical characteristics of those with confirmed GDM (cases) and those with negative confirmatory OGTT (controls) were compared.
    RESULTS:  The majority of participants (75.4%) had confirmed GDM. However, there were no significant differences between cases and controls with regard to age, nationality, or clinical or pregnancy-related factors. Of note, the cohort was characterized by high gravidity and high parity, which may indicate susceptibility to GDM.
    CONCLUSIONS:  The study findings support the usefulness of the 50 g OGTT for the screening of pregnant women at high risk for GDM. In addition, high gravidity and parity may also be risk factors for GDM, warranting closer monitoring for GDM and further research in a high-natality population such as that of Saudi Arabia.
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  • 文章类型: Journal Article
    据报道,组织血型ABO系统转移酶(BGAT)的蛋白质水平与心脏代谢疾病相关。但其对妊娠相关结局的影响仍不清楚。在这里,我们进行了两个样本孟德尔随机化(MR)研究,以确定BGAT蛋白水平在妊娠相关结局中的假定因果作用。顺式作用蛋白数量性状位点(pQTLs)与BGAT的蛋白水平(P<5×10-8)强烈相关,被用作代理BGAT蛋白水平的工具(N=35,559,数据来自deCODE),使用来自Fenland(N=10,708)和INTERVAL(N=3301)的另外两个pQTL数据集作为验证暴露。选择10例妊娠相关疾病和并发症作为结局。我们观察到,较高的蛋白质水平的BGAT对妊娠静脉并发症和痔疮(VH)(优势比[OR]=1.19,95%置信区间[95%CI]=1.12-1.27,共同定位概率=91%),通过使用来自Fenland和INTERVAL的pQTL进行验证。孟德尔随机化结果进一步显示了BGAT蛋白对妊娠期高血压(GH)的影响(OR=0.97,95%CI=0.96-0.99),尽管很少有共同定位的证据支持它。敏感性分析,包括顺式作用BGATpQTL的全蛋白质组孟德尔随机化,几乎没有水平多效性的证据。正确地,我们的研究优先考虑BGAT作为妊娠期静脉并发症和痔疮的推定致病蛋白.需要未来的流行病学和临床研究来调查BGAT是否可以被视为预防不良妊娠结局的药物靶标。
    Protein level of Histo-Blood Group ABO System Transferase (BGAT) has been reported to be associated with cardiometabolic diseases. But its effect on pregnancy related outcomes still remains unclear. Here we conducted a two-sample Mendelian randomization (MR) study to ascertain the putative causal roles of protein levels of BGAT in pregnancy related outcomes. Cis-acting protein quantitative trait loci (pQTLs) robustly associated with protein level of BGAT (P < 5 ×10-8) were used as instruments to proxy the BGAT protein level (N = 35,559, data from deCODE), with two additional pQTL datasets from Fenland (N = 10,708) and INTERVAL (N = 3301) used as validation exposures. Ten pregnancy related diseases and complications were selected as outcomes. We observed that a higher protein level of BGAT showed a putative causal effect on venous complications and haemorrhoids in pregnancy (VH) (odds ratio [OR]=1.19, 95% confidence interval [95% CI]=1.12-1.27, colocalization probability=91%), which was validated by using pQTLs from Fenland and INTERVAL. The Mendelian randomization results further showed effects of the BGAT protein on gestational hypertension (GH) (OR=0.97, 95% CI=0.96-0.99), despite little colocalization evidence to support it. Sensitivity analyses, including proteome-wide Mendelian randomization of the cis-acting BGAT pQTLs, showed little evidence of horizontal pleiotropy. Correctively, our study prioritised BGAT as a putative causal protein for venous complications and haemorrhoids in pregnancy. Future epidemiology and clinical studies are needed to investigate whether BGAT can be considered as a drug target to prevent adverse pregnancy outcomes.
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  • 文章类型: Journal Article
    背景:长期以来,人们一直认为ABO血型是影响感染性疾病易感性的重要因素。许多研究探索了ABO血型与感染COVID-19的可能性和感染的严重程度之间的联系,产生相互矛盾的结果。
    目的:本研究旨在确定年龄的影响,性别,ABO血型,和Rh因子对COVID-19感染潜在发展的影响。
    方法:横截面,观察性研究收集的数据包括年龄,性别,ABO血型,和来自乌代浦尔R.R.牙科学院和医院的80名医疗保健专业人员的Rh因子,这些专业人员通过谷歌表格(谷歌有限责任公司,山景,加州,美国)。卡方统计评估了样本中血型和抗体的分布。使用Windows版IBM社会科学统计软件包(SPSS)的21.0版(IBMCorp,Armonk,NY).
    结果:在这项研究中,O型血占45.2%(n=33),A型为21.9%(n=16),B型为24.7%(n=18),AB型为8.2%(n=6)。Rh阳性样本为87.7%(n=64),Rh阴性样本为12.3%(n=9)。A型(p=0.001)和O型(p=0.049)之间存在统计学上的显着相关性。31名参与者(42.5%)年龄在20-30岁之间,26人(35.6%)年龄在31-40岁之间,16人(21.9%)年龄在41-50岁之间。统计学分析显示各年龄组间差异无统计学意义(p>0.05)。
    结论:患者的性别,年龄,和并发疾病是决定严重急性呼吸道综合征-冠状病毒2(SARS-CoV-2)感染严重程度的关键风险变量.越来越多的数据表明,ABO血型在生理和生化水平的疾病生物学中具有重要作用。因此,这项研究增加了有价值的信息,以加强和建立因素的潜在作用,比如年龄和性别,在COVID-19感染的可能致病性中。
    BACKGROUND: The ABO blood group has long been recognized as a significant factor influencing susceptibility to infectious diseases. Numerous studies have explored the links between ABO blood types and both the likelihood of contracting COVID-19 and the severity of the infection, yielding conflicting results.
    OBJECTIVE: This study intends to determine the influence of age, gender, the ABO blood group, and Rh factor on the potential development of COVID-19 infection.
    METHODS: A cross-sectional, observational study collected data including age, gender, the ABO blood group, and Rh factor from 80 healthcare professionals at R. R. Dental College and Hospital in Udaipur with a positive history of COVID-19 infection via Google Forms (Google LLC, Mountain View, California, United States). Chi-square statistics assessed the distribution of blood types and antibodies within the samples. Odds ratio (OR) assays were used to assess the probability of a certain blood type or Rh factor with version 21.0 of the IBM Statistical Package for Social Sciences (SPSS) for Windows (IBM Corp, Armonk, NY).
    RESULTS: In this study, the blood group type O was 45.2% (n = 33), type A was 21.9% (n = 16), type B was 24.7% (n = 18), and type AB was 8.2% (n = 6). Rh-positive samples were 87.7% (n = 64) and Rh-negative samples were 12.3% (n = 9). There was a statistically significant correlation between Type A (p = 0.001) and Type O (p = 0.049). Thirty-one participants (42.5%) were aged 20-30 years, 26 (35.6%) were aged 31-40 years, and 16 (21.9%) were aged 41-50 years. The statistical analysis revealed no statistically significant distinction among the age groups (p > 0.05).
    CONCLUSIONS: The patients\' gender, age, and concurrent disorders are crucial risk variables that determine the severity of severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection. There is growing data indicating that the ABO blood group has a significant role in disease biology at physiological and biochemical levels. Hence, this study adds valuable information to strengthen and establish the potential role of factors, such as age and gender, in the possible pathogenicity of COVID-19 infection.
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  • 文章类型: Journal Article
    目的:评估输血传播感染(TTI)与ABO之间的关系,Rh-D,献血者中的凯尔血液系统。
    方法:这是一项对10,095名捐献者的回顾性研究,这些捐献者访问了Asir医院的血库,Abha,沙特阿拉伯。数据包括人口统计信息,ABO,Rh-D,和凯尔血型,以及TTIs的血清学和分子检测结果(TTIs从每个供体的记录中获得)。采用卡方检验和Fisher精确检验来确定血型和TTI之间可能的关联。
    结果:供者中的TTI患病率为6.3%,HBcAb(70%)是阳性供体中最普遍的生物标志物。O型血的捐献者感染TTI的风险较高。在HIV和A血型之间观察到显著关联(χ2=6.30,p=0.01),HBsAg和AB组(χ2=17.3193,p=0.00003),疟疾和A组(χ2=5.0567,p=0.02),HBV-DNA和AB组(χ2=12.3163,p=0.0004)。此外,Kell血型与HIV显著相关(χ2=14.5,p=0.0001),HBcAb(χ2=78.51,p<0.0001),梅毒(χ2=25.225,p<0.00001)。
    结论:ABO和Kell血型与TTI标志物相关。这些发现强调了在筛查和管理献血方面需要改进的策略和方法,以最大程度地降低TTI的风险。
    OBJECTIVE: To evaluate the association between transfusion-transmitted infections (TTIs) and ABO, Rh-D, and Kell blood systems among blood donors.
    METHODS: This was a retrospective study of 10,095 donors who visited the Blood Bank at Asir Hospital, Abha, Saudi Arabia. Data including demographic information, ABO, Rh-D, and Kell blood groups, and serological and molecular test results of TTIs (the TTIs were obtained from each donor\'s records). Chi-squared and Fisher\'s exact tests were employed to establish possible associations between blood groups and TTIs.
    RESULTS: The prevalence rate of TTIs among donors was 6.3%, with HBcAb (70%) being the most prevalent biomarker among positive donors. Donors with the O blood group were at a higher risk of contracting TTIs. Significant associations were observed between HIV and blood group A (χ2=6.30, p=0.01), HBsAg and group AB (χ2=17.3193, p=0.00003), malaria and group A (χ2=5.0567, p=0.02), and HBV-DNA and group AB (χ2=12.3163, p=0.0004). Also, Kell blood group was significantly associated with HIV (χ2=14.5, p=0.0001), HBcAb (χ2=78.51, p<0.0001), and syphilis (χ2=25.225, p<0.00001).
    CONCLUSIONS: ABO and Kell blood groups are associated with TTI markers. These findings highlight the need for improved strategies and approaches in screening and managing blood donations to minimize the risk of TTIs.
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  • 文章类型: Journal Article
    有关于COVID-19与ABO表型之间关联的初步研究,结果存在争议。只有两项研究调查了除ABO外的Rh血型与COVID-19的关系;然而,在统计学分析中,ABO和Rh血型被分别考虑.因此,本病例对照研究的目的是确定COVID-19与ABO血型的相关性,同时考虑Rh血型.这项研究是在昆都士COVID-19治疗特定中心进行的,Spin-Zar医院(昆都士省,阿富汗东北部)。共纳入301例确诊的COVID-19患者和1039名健康献血者作为对照组。
    Rh-表型显著增加COVID-19的风险(OR=2.97,95%CI1.86-3.89,P<0.001)。尽管血型A增加了患COVID-19的风险,但这种关联没有达到统计学意义。在组合表型分析中,A血型显著增加COVID-19的风险(OR=7.24,95%CI3.62~14.4,P<0.001)。多因素分析显示Rh与ABO交互作用显著(P<0.013)。
    这些结果表明,对COVID-19的易感性与A血型密切相关。
    UNASSIGNED: There are preliminary studies about the association between COVID-19 and ABO phenotypes and the results are controversial. There are only two studies which investigated the association of Rh blood groups in addition to ABO with COVID-19; however, in the statistical analysis ABO and Rh blood groups have been considered separately. Therefore, the present case-control study was performed to determine the association of COVID-19 with ABO blood groups considering the Rh blood groups simultaneously. The study was conducted in Kunduz COVID-19 treatment specific center, Spin-Zar Hospital (Kunduz Province, North East Afghanistan). A total of 301 confirmed COVID-19 cases and 1039 healthy blood donors as control group were included in the study.
    UNASSIGNED: The Rh- phenotype strongly increased the risk of COVID-19 (OR = 2.97, 95% CI 1.86-3.89, P < 0.001). Although blood group A increased the risk of developing COVID-19, the association did not reach statistical significance. In analysis of the combination phenotypes, the A- blood group remarkably increased the risk of COVID-19 (OR = 7.24, 95% CI 3.62-14.4, P < 0.001). Multivariate analysis revealed that the interaction of Rh and ABO is significant (P < 0.013).
    UNASSIGNED: These findings indicate that susceptibility to COVID-19 is strongly associated with A- blood group.
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  • 文章类型: Journal Article
    回顾性评估ABO和RhD血型的分布及其与疾病的关系。
    这项回顾性研究于2月1-28日在土耳其布尔萨乌卢达大学家庭健康中心进行,2023年。回顾性评估了在家庭健康中心注册且已知血型的个人的数据。血型,社会人口统计学发现,现有疾病,过敏,并获得了遗传病条件。低于0.05的P值被认为具有统计学意义。在SPSS25.0程序中进行了分析。
    共3834人,1935名男性(50.5%)和1899名女性(49.5%)参加了这项研究。个体的平均年龄为26.45±10.45岁。大约75.8%的参与者是大学生,6.3%是卫生工作者,17.9%来自其他职业群体。血型率测定为ORhD+,为33.5%,ABRhD+为26.9%,RhD+14.9%,ABRhD-7.7%,BRhD+7%,ORhD-4.6%,BRhD-为3.2%,ARhD-为2.2%。确定ORhD-组的遗传病率高于其他组(p=0.01)。
    确定在我们地区的人群中发现ORhD血型的频率高于其他人群。这种不同的结果取决于ARhD+血型,这是在全国范围内最常见的,可能反映了由于我们人口中的学生而受到的不同地理区域和民族特征的影响。此外,关于血型和职业之间关系的结果,遗传学,现有疾病,过敏的存在,眼睛的视觉缺陷很重要。
    UNASSIGNED: To retrospectively evaluate the distribution of ABO and RhD blood groups and their relationship with diseases.
    UNASSIGNED: The retrospective study was carried out in Bursa Uludag University Family Health Center in Turkey between 1-28 February, 2023. The data of individuals who were registered with the Family Health Center and whose blood types were known were evaluated retrospectively. Blood group type, sociodemographic findings, existing diseases, allergies, and genetic disease conditions were obtained. P-values below 0.05 were considered statistically significant. Analysis were made in the SPSS 25.0 program.
    UNASSIGNED: A total of 3834 people, 1935 male (50.5%) and 1899 female (49.5%) participated in the study. The mean age of the individuals was 26.45±10.45 years. About 75.8 percent of the participants were university students, 6.3 percent were health workers, and 17.9 percent were from other occupational groups. The rates of blood groups were determined as O Rh D+ at 33.5%, AB Rh D+ at 26.9%, A Rh D+ at 14.9%, AB Rh D- at 7.7%, B Rh D+ at 7%, O Rh D- at 4.6%, B Rh D- at 3.2% and A Rh D- at 2.2%. It was determined that the O Rh D- group had a higher rate of genetic disease than the other groups (p=0.01).
    UNASSIGNED: It was determined that the O Rh D+ blood group was found more frequently in our region\'s population than in other groups. This different result depending on the A Rh D+ blood group, which is the most common throughout the country may have reflected the influence of different geographical regions and ethnic characteristics due to the students in our population. In addition, the results regarding the relationships between blood groups and occupation, genetics, existing disease, presence of allergies, and visual defects in the eye are important.
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  • 文章类型: Journal Article
    目的:确定ABO和Rh(D)血型表型在献血者中的分布。
    方法:这项回顾性横断面研究纳入了从血库供血者记录收集的社会人口统计学和血型表型数据的献血者。描述性统计用于总结分类变量的数量和百分比分布。为了确定ABO和Rh表型的分布是否不同,采用卡方检验。
    结果:在14,887名献血者中,年龄中位数为20岁(四分位距=18-30岁),72.8%是男性,年轻供体(年龄范围=18-24岁)占61.7%。O组(45.6%)是最普遍的ABO血液表型,其次是A(29.5%),B(20.2%),和AB(4.7%)。优势血型为O阳性(42.4%),其次是A阳性(27.4%),B阳性(18.9%),AB阳性(4.3%),O阴性(3.2%),阴性(2.1%),B为阴性(1.3%),AB为阴性(0.4%)。总体Rh(D)阴性分布率为7.0%。
    结论:这项研究表明,O型血是最常见的ABO表型,其次是A,B,AB。总的来说,93.0%的供体为Rh(D)阳性。这些发现可能有助于指导输血计划。
    OBJECTIVE: To determine the distribution of ABO and Rh (D) blood group phenotypes among blood donors.
    METHODS: This retrospective cross-sectional study enrolled blood donors whose socio-demographic and blood group phenotype data were collected from blood bank donor records. Descriptive statistics were used to summarise the number and percentage distribution of categorical variables. To determine if the distributions of the ABO and Rh phenotypes differed, a chi-square test was employed.
    RESULTS: Of 14,887 blood donors with a median age of 20 years (interquartile range = 18-30 years), 72.8% were males, and young donors (age range = 18-24 years) accounted for 61.7%. Group O (45.6%) was the most prevalent ABO blood phenotype, followed by A (29.5%), B (20.2%), and AB (4.7%). The dominant blood group was O positive (42.4%), followed by A positive (27.4%), B positive (18.9%), AB positive (4.3%), O negative (3.2%), A negative (2.1%), B negative (1.3%), and AB negative (0.4%). The overall Rh (D)-negative distribution rate was 7.0%.
    CONCLUSIONS: This study showed that blood group O was the most common ABO phenotype, followed by A, B, and AB. Overall, 93.0% of the donors were Rh (D)-positive. These findings may help guide blood transfusion programmes.
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  • 文章类型: Journal Article
    目的:探讨在阿卜杜勒阿齐兹国王大学医院(KAUH)分娩的孕妇ABO血型与宫内胎儿生长受限(IUGR)之间的潜在关联。吉达,沙特阿拉伯。
    方法:这是一项回顾性队列研究,分析了在KAUH分娩并进行产后随访的孕妇的医疗记录。通过与患者进行电话访谈来完成缺失的数据。
    结果:共纳入436例患者,平均年龄31.2±5.5岁。50.7%的女性为O型血,28.4%的人是A型血,16.5%的人是B型血,4.4%的血型为AB型。大多数(94.7%)的恒河猴抗原检测呈阳性。尽管具有统计学意义,血型为AB和B的女性表现出更高的IUGR发生率(31.6%,27.8%,分别)与血型为A和O的人相比,IUGR发生率较低(26.6%,24%,分别)。
    结论:我们的研究结果表明,血型为AB和B的妇女的IUGR发生率略高于A和O的妇女,IUGR发生率较低。将血型O与其他组进行比较的更大研究可能会更深入地了解ABO血型与IUGR之间的关系。
    OBJECTIVE: To investigate the potential association between ABO blood groups and intrauterine fetal growth restriction (IUGR) among pregnant women who delivered at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia.
    METHODS: This is a retrospective cohort study analyzed the medical records of pregnant women who delivered at KAUH and had postnatal follow-up visits. Missing data were completed by conducting phone interviews with patients.
    RESULTS: A total of 436 patients with a mean age of 31.2±5.5 years were included in the study. 50.7% of the women had blood type O, 28.4% had blood type A, 16.5% had blood type B, and 4.4% had blood type AB. The majority (94.7%) tested positive for the Rhesus antigen. Although statistically significant, women with blood groups AB and B exhibited higher rates of IUGR (31.6%, and 27.8%, respectively) compared to those with blood groups A and O, who had lower rates of IUGR (26.6%, and 24%, respectively).
    CONCLUSIONS: Our study results showed that women with blood groups AB and B had slightly higher rates of IUGR than those with A and O, who had lower rates of IUGR. A larger study comparing blood group O to other groups may provide more insight into the relationship between ABO blood groups and IUGR.
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  • 文章类型: Journal Article
    背景:安全输血治疗需要对献血者和受血者进行准确的检测,以确定他们的ABO血型相容性。基因分型并不总是澄清血清学血型差异,常规PCR方法不适合鉴定ABO单倍型。因此,建立了基于等位基因特异性的长程测序分型方法。
    方法:对研究样本(n=100)和6例患者样本进行ABO表型分析,并筛选ABO基因中特定的单核苷酸多态性(SNP)。基于内含子1中鉴定的杂合SNPs(12897G>A),2(437C>T)或4(102C>A,1511G>T)使用高保真长程PCR系统和Sanger测序分别研究了两个ABO等位基因。等位基因与确定的ABO表型相关。
    结果:对多达6743个碱基的等位基因PCR产物进行直接测序已成功区分了ABO*A1.01,ABO*A2.01,ABO*B.01,ABO*O.01.01,ABO*O.01.02和ABO*O.02.01等位基因的常见组合。发现64个单倍型中的10个以前没有描述。在患者样本中检测到不常见的ABO*AW.31.01和不常见的O等位基因ABO*O.05和ABO*O.02.03等位基因,解决最初不确定的血清学ABO分型结果。
    结论:该方法是分析ABO单倍型的有效工具。适用于ABO分子诊断和免疫血液学研究,它可能有助于改善输血前血型检测。
    BACKGROUND: Safe transfusion therapy requires accurate testing of blood donors and recipients to determine their ABO blood group compatibility. Genotyping does not always clarify serological blood typing discrepancies and conventional PCR methods are not suitable to identify ABO haplotypes. Therefore, an allele-specific long-range sequencing-based typing method was established.
    METHODS: Study samples (n = 100) and six patient samples were ABO phenotyped and screened for specific single nucleotide polymorphisms (SNP) in the ABO gene. Based on identified heterozygous SNPs in intron 1 (12897G>A), 2 (437C>T) or 4 (102C>A, 1511G>T) both ABO alleles were investigated separately using a high-fidelity long-range PCR system and Sanger sequencing. The alleles were correlated to the ABO phenotypes determined.
    RESULTS: Direct sequencing of allelic PCR products up to 6743 bases has been successful in discriminating common combinations of the ABO*A1.01, ABO*A2.01, ABO*B.01, ABO*O.01.01, ABO*O.01.02 and ABO*O.02.01 alleles. 10 out of 64 haplotypes were found to be not previously described. The uncommon ABO*AW.31.01 and the unusual O alleles ABO*O.05 and ABO*O.02.03 alleles were detected in patient samples, resolving the initial inconclusive serologic ABO typing results.
    CONCLUSIONS: This method is an effective tool for analyzing ABO haplotypes. Applicable for ABO molecular diagnostics and immunohematology research it may help to improve pre-transfusion blood type testing.
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