Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

Hashmi, Ghazala; Shariff, Tasmia; Zhang, Yi; Cristobal, Joan; Chau, Chiu; Seul, Michael; Vissavajjhala, Prabhakar; Baldwin, Christopher; Hue‐Roye, Kim; Charles-Pierre, Dalisay; Lomas‐Francis, Christine; Reid, Marion E.

doi:10.1111/j.1537-2995.2007.01178.x

Cited by 126 publications

(156 citation statements)

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“…Now that almost all the blood group genes have been cloned and the molecular bases of most antigens determined, it is feasible to conduct such a study with the use of high-throughput DNA-based methods. [122][123][124][125] Furthermore, the availability of rapid DNA sequencing methodologies presages an era in which mass screening of genes encoding red cell membrane proteins could be used to identify new polymorphisms of relevance to malarial invasion. Studies of this type, focused in tropical Africa, South East Asia, and Latin America, would provide a valuable database of new information about blood group diversity in populations inhabiting these regions not only for malarial epidemiologists but also for those investigating human susceptibility to new emerging infectious diseases given that zoonoses from wildlife in these regions have been identified as the most significant growing threat to global health of all emerging infectious diseases.…”

Section: Discussionmentioning

confidence: 99%

The relationship between blood groups and disease

Anstee

2010

Blood

383

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The relative contribution of founder effects and natural selection to the observed distribution of human blood groups has been debated since blood group frequencies were shown to differ between populations almost a century ago. Advances in our understanding of the migration patterns of early humans from Africa to populate the rest of the world obtained through the use of Y chromosome and mtDNA markers do much to inform this debate. There are clear examples of protection against infectious diseases from inheritance of polymorphisms in genes encoding and regulating the expression of ABH and Lewis antigens in bodily secretions particularly in respect of Helicobacter pylori, norovirus, and cholera infections. However, available evidence suggests surviving malaria is the most significant selective force affecting the expression of blood groups. IntroductionHirszfeld and Hirszfeld 1 showed the frequencies of blood groups A and B differ between populations. Their observations raised fundamental questions regarding the causes of these differences, which were eloquently summarized by Mourant et al 2(p1) :Were the differences the result of random genetic drift and founder effects, in small populations which later multiplied and stabilized the original, fortuitous, frequencies, or were they the result of natural selection, arising from differences in fitness between the various blood groups, fitnesses which themselves depended upon locally determined features of the external environment?Mourant et al concluded that "most workers now agree that both processes are operative, but their relative importance remains in question." 2 We now have detailed information concerning almost all the genes giving rise to blood group polymorphisms, the structure of the gene products and the antigens themselves, and in many cases functional information sufficient to delineate mechanisms of interaction with external agents. [3][4][5] In addition, studies on the tracking of Y chromosome and mtDNA haplotypes in human populations provide us with unprecedented information concerning the significance of genetic drift and founder effects in determining the genetic background of different world populations. 6 Given this new information, it seems an appropriate time to revisit these questions and ask whether we are any nearer understanding the relative importance of natural selection and founder effects in determining the distribution of human blood groups. Infectious diseases and selection for ABO blood group antigensThe molecular basis of the ABO blood group system was elucidated in 1990. 7 The gene encodes a glycosyltransferase, which transfers N-acetyl D-galactosamine (group A) or D-galactose (group B) to the nonreducing ends of glycans on glycoproteins and glycolipids. The group O phenotype results from inactivation of the A1 glycosyltransferase gene, and the nonreducing ends of the corresponding glycans in group O subjects express the blood group H antigen ( Figure 1A). The ABH antigens are not confined to red cells but are widely expressed i...

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Section: Discussionmentioning

confidence: 99%

The relationship between blood groups and disease

Anstee

2010

Blood

383

349

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“…This automated platform genotypes for 32 antigens in 12 different blood group systems, all encoded by simple SNPs. 34,35 The complexities and numerous alleles in the Rh blood group system have precluded testing for RH other than for the common non-variant forms of C/c and E/e antigens but automated testing is being developed. An automated test platform developed in Europe (BLOODChip, Progenika Biopharma S.A.) is now available in the United States; in addition to minor blood group antigens it includes an extensive number of variant RHD alleles.…”

Section: Rh Genotypingmentioning

confidence: 99%

Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

Chou

Westhoff²

2009

Hematology

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The last decade has witnessed an abundance of information detailing the genetic diversity of the RH locus which has exceeded all estimates predicted by serology. Well over 120 RHD and over 60 different RHCE alleles have been documented, and new alleles are still being discovered. For clinical transfusion medicine, RH genetic testing can now be used to determine RHD zygosity, resolve D antigen status, and detect altered RHD and RHCE genes in individuals at risk for producing antibodies to high-incidence Rh antigens, particularly patients with sickle cell disease (SCD).T ransfusion of patients with sickle cell disease (SCD) represents a significant challenge in clinical transfusion medicine with red blood cell (RBC) alloimmunization a primary and serious complication of transfusions. A major cause of alloimmunization in patients with SCD is the disparate distribution of red cell antigens between donors, who are primarily of European ancestry, and patients with SCD, who are primarily of African ancestry. Management of alloimmunization in SCD has been the subject of much debate, 1,2 and currently there is no standard approach. Over two thirds of alloantibodies formed by patients with SCD have Rh blood group specificities. Many programs transfuse patients with SCD with RBCs that are phenotype-matched for D, C/c, E/e, and K, and some also supply RBCs from African-American donors when possible. Although these approaches reduce the incidence of alloantibody production, patients still become alloimmunized. Genetic analysis of patients who develop antibodies in the face of conventional antigen matching has revealed that these patients carry altered RH alleles. RH Genes and Rh ProteinsTwo genes, RHD and RHCE, lie in close proximity on chromosome 1 and encode 416-amino acid Rh proteins: one encodes the D antigen, and the other encodes CE antigens in various combinations (ce, cE, Ce, or CE) (Figure 1). Each gene has ten exons; they are 97% identical and encode proteins that differ by 32 to 35 amino acids (Figure 1). This contrasts with most blood group antigens, which are encoded by single genes with alleles that differ TRANSFUSION MEDICINE ___________________________________________________________________________________ by only one or a few amino acids. For comprehensive reviews, see Westhoff 3 and Avent. The conventional RH genes shown in Figure 1 are found in all population groups, although with different frequencies. Commercial antibody reagents detect expression of the five principal Rh antigens: D, C, c, E, and e. Variant RHD and RHCE alleles encode Rh proteins with amino acid changes that cannot be distinguished serologically, but can be recognized by the immune system as foreign. Of relevance for transfusion in patients with SCD, RH alleles encoding altered C and e antigens are frequent in African ethnic groups. 5,6 Some patients with SCD are at risk for production of antibodies to both the RhCE and RhD proteins, a serious and potentially life-threatening complication. Variations of RhD

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“…In individuals of European-descent and African-descent, the frequency of Jk a antigen is slightly higher than that of Jk b antigen (Hashmi et al, 2007). In the Chinese Han population, the frequency of the Jk b antigen is slightly higher than that of the Jk a antigen (Fu et al, 2001b;Song et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

MNS, Duffy, and Kell blood groups among the Uygur population of Xinjiang, China

Lin¹,

Du²,

Shan³

et al. 2017

Genet. Mol. Res.

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ABSTRACT. Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused on increasingly. However, rare blood groups such as MN, Duffy, Kidd, MNS, and Diego are largely unexplored. No systematic reports exist concerning the polymorphisms and allele frequencies of rare blood groups in China's ethnic minorities such as Uygur and Kazak populations of Xinjiang, unlike those on the Han population. Therefore, this study aimed to investigate the allele frequencies of rare blood groups, namely, MNS, Duffy, Kell, Dombrock, Diego, Kidd, Scianna, Colton, and Lutheran in the Uygur population of Xinjiang Single specific primer-polymerase chain reaction was performed for genotyping and statistical analysis of 9 rare blood groups in 158 Uygur individuals. Allele frequencies were compared with distribution among other ethnic groups. Observed and expected values of genotype frequencies were compared using the chi-square test. Genotype frequencies obeyed the Hardy-Weinberg equilibrium (P > 0.5) and Frequencies of the four groups, MNS, Duffy, Dombrock, and Diego, in the Uygur population differed from those in other ethnic groups. Gene distribution of the Kell, Kidd, and Colton was similar to that in Tibetan and Han populations, though there were some discrepancies. Gene distribution of Scianna and Lutheran groups showed monomorphism similar to that in Tibetan and Han populations. These findings could contribute to the investigation of the origin, evolution, and hematology of Uygur population of Xinjiang and assist in screening of rare blood groups in ethnic minorities, meeting of clinical blood supply demands, and building of the national rare blood group library.

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Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high‐throughput DNA analysis

Abstract: DNA analysis with BeadChip format, combined with computerized data entry and analysis, permits the prediction of minor blood group antigens.

Cited by 126 publications

References 19 publications

The relationship between blood groups and disease

The relationship between blood groups and disease

Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

MNS, Duffy, and Kell blood groups among the Uygur population of Xinjiang, China

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