ABO blood groups and fertility—with special reference to intrauterine selection due to materno-fetal incompatibility

The purpose of the present investigation was to study whether there is differential fertility between different mating types of ABO blood group system. Selective force which is operating through maternal-fetal incompatibility has been observed in the differential fertility between compatible and incompatible mating groups in the present sample of 183 families of Visakhapatnam town of Andhra Pradesh, India. The differences in the mean numbers of pregnancies as well as living children between the two major mating groups, compatible and incompatible are significant. The fertility rates of O fathers and O mothers were significantly higher than those in matings in which neither parents belongs to O. The selection is operating to reduce the gene ratio of A and to increase the gene ratios of O and B in this sample.     

ABO blood groups in a natural population of black-handed tamarins (Saguinus midas niger)

Eighty-one black-handed tamarins from the Tucurui region were tested for human type ABO blood groups by salivary inhibition tests. Eleven belonged to the A group, 45 to B, and 25 to AB. The serum samples were tested for the presence of agglutinins having specificities like those of humans. The ABO system appeared to be polymorphic, with three alleles occurring at the following frequencies: A = 0.26, B = 0.66, and O = 0.08. The observed distribution fitted the expected on the basis of Hardy-Weinberg equilibrium.     

ABO Genetic Variation in Neanderthals and Denisovans

Variation at the ABO locus was one of the earliest sources of data in the study of human population identity and history, and to this day remains widely genotyped due to its importance in blood and tissue transfusions. Here, we look at ABO blood type variants in our archaic relatives: Neanderthals and Denisovans. Our goal is to understand the genetic landscape of the ABO gene in archaic humans, and how it relates to modern human ABO variation. We found two Neanderthal variants of the O allele in the Siberian Neanderthals (O1 and O2), one of these variants is shared with an European Neanderthal, who is a heterozygote for this O1 variant and a rare cis-AB variant. The Denisovan individual is heterozygous for two variants of the O1 allele, functionally similar to variants found widely in modern humans. Perhaps more surprisingly, the O2 allele variant found in Siberian Neanderthals can be found at low frequencies in modern Europeans and Southeast Asians, and the O1 allele variant found in Siberian and European Neanderthal is also found at very low frequency in modern East Asians. Our genetic distance analyses suggest both alleles survive in modern humans due to inbreeding with Neanderthals. We find that the sequence backgrounds of the surviving Neanderthal-like O alleles in modern humans retain a higher sequence divergence than other surviving Neanderthal genome fragments, supporting a view of balancing selection operating in the Neanderthal ABO alleles by retaining highly diverse haplotypes compared with portions of the genome evolving neutrally.     

Increased risk of venous thrombosis by AB alleles of the ABO blood group and Factor V Leiden in a Brazilian population

Most cases of a predisposition to venous thrombosis are caused by resistance to activated protein C, associated in 95% of cases with the Factor V Leiden allele (FVL or R506Q). Several recent studies report a further increased risk of thrombosis by an association between the AB alleles of the ABO blood group and Factor V Leiden. The present study investigated this association with deep vein thrombosis (DVT) in individuals treated at the Hemocentro de Pernambuco in northeastern Brazil. A case-control comparison showed a significant risk of thrombosis in the presence of Factor V Leiden (OR = 10.1), which was approximately doubled when the AB alleles of the ABO blood group were present as well (OR = 22.3). These results confirm that the increased risk of deep vein thrombosis in the combined presence of AB alleles and Factor V Leiden is also applicable to the Brazilian population suggesting that ABO blood group typing should be routinely added to FVL in studies involving thrombosis.     

Blood group O alleles in Native Americans: Implications in the peopling of the Americas

All major ABO blood alleles are found in most populations worldwide, whereas the majority of Native Americans are nearly exclusively in the O group. O allele molecular characterization could aid in elucidating the possible causes of group O predominance in Native American populations. In this work, we studied exon 6 and 7 sequence diversity in 180 O blood group individuals from four different Mesoamerican populations. Additionally, a comparative analysis of genetic diversity and population structure including South American populations was performed. Results revealed no significant differences among Mesoamerican and South American groups, but showed significant differences within population groups attributable to previously detected differences in genetic drift and founder effects throughout the American continent. Interestingly, in all American populations, the same set of haplotypes O¹, O^1v, and O^1v(G542A) was present, suggesting the following: (1) that they constitute the main genetic pool of the founding population of the Americas and (2) that they derive from the same ancestral source, partially supporting the single founding population hypothesis. In addition, the consistent and restricted presence of the G542A mutation in Native Americans compared to worldwide populations allows it to be employed as an Ancestry informative marker (AIM). Present knowledge of the peopling of the Americas allows the prediction of the way in which the G542A mutation could have emerged in Beringia, probably during the differentiation process of Asian lineages that gave rise to the founding population of the continent. Am J Phys Anthropol, 2010. © 2009 Wiley‐Liss, Inc.     

ABO血型异常遗传的肯定亲子案例分析

目的：对ABO血型遗传异常而DNA多态性检测又肯定亲生血缘关系案例进行分析,探究特殊案例的原因,与同行共享。方法：收集近几年芙蓉司法鉴定中心违反ABO血型遗传规律的三个案例,通过PCR复合扩增和ABI3130遗传分析仪对3个亲子鉴定案例8份血样本进行检测。双亲进行了15个常染色体STR基因位点,单亲进行了22个常染色体STR基因位点分析。结果：三个案例均极强力支持父母（父亲）与孩子之间存在亲生血缘关系。结论：凭违反ABO血型遗传规律排除亲生血缘关系显然是不行的,必须以DNA多态性检测为判断标准。     

Association of the ABO blood group with certain human diseases

Following the discovery of ABO blood group over 100 years ago, a variety of studies sought to determine whether different disease states are influenced by ABO inheritance. As oligosaccharide antigens, ABO blood group antigens are widely expressed on the membrane of red blood cells and tissue cells, as well as in the saliva and body fluid. It is by far the most important blood group system in human immunohematology and transfusion medicine. While, other than determining blood group phenotype, accumulating evidence indicates that ABO blood group is implicated in the development of a number of human diseases. This review mainly focuses on the association between ABO blood group and cardiovascular system risk, corona virus disease 2019 (COVID-19), affective disorders, allergic diseases, as well as cancers.     

Rare B(A)02/O01 was found in Sichuan again: a case report

B(A) is a rare ABO blood subgroup. Here we reported a B(A)02/O01 case. One 25-year-old female patient showed inconsistent forward and reverse blood grouping results based on micro-column gel agglutination assay. PCR-SSP and PCR-SBT based genotyping indicated that the patient was B(A)02/O01 heterozygous.     

人类血型性状综合遗传大实验的设计与教学实践

综合大实验能够训练学生灵活应用理论知识并掌握实验技能,成为当前实验课教学改革的重要方式。本文以人类的ABO血型性状为实验对象,设计了“人类ABO血型分子基因分型与群体遗传平衡分析”大实验。实验中提取同学唾液中黏膜细胞的DNA,经过PCR扩增目的片段、酶切及电泳分离一系列分子遗传技术分析,鉴定出每位同学的基因型;然后以全班同学为一个类似孟德尔群体调查ABO血型的各种基因型频数,用Popgene软件分析各种群体遗传参数。通过开放教学不仅让学生掌握了分子遗传实验技术和群体遗传分析技术及软件应用,还让学生自主设计方案优化分子技术环节,提高学生驾驭知识的能力。通过5年的教学探索与实践,建立了稳定的分子遗传实验体系,能够清楚地检测出ABO血型的6种基因型：I^AI^A、I^Ai、I^BI^B、I^Bi、I^AI^B、ii;综合了分子遗传与群体遗传的实验教学,统计全班同学6种基因型的频数,直接计算3个复等位基因的频率,进而应用软件分析群体遗传各种参数;实现了学生自主设计并完成实验的开放式实验教学;大实验教学获得了学生的好评,取得了很好的教学效果。该大实验可直接应用于生物类专业的遗传学实验教学,其中的教学理念和方法还可推广应用于其他生物学实验教学。