High‐throughput red blood cell antigen genotyping using a nanofluidic real‐time polymerase chain reaction platform

Hopp, Kathleen A.; Weber, Kathleen M.; Bellissimo, Daniel B.; Johnson, Susan T.; Pietz, Bradley C.

doi:10.1111/j.1537-2995.2009.02377.x

Cited by 61 publications

(53 citation statements)

References 34 publications

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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

378

349

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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

378

349

View full text Add to dashboard Cite

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“…Additional studies, including triplicate testing of 427 A-A donors, have shown more than 99% concordance with serology. 19 One advantage of the OpenArray platform is the user-specified target selection so that the platform can be adapted to screen specific ethnic groups.…”

Section: High-throughput Methodsmentioning

confidence: 99%

Future of Molecular Testing for Red Blood Cell Antigens

Moulds¹

2010

Clinics in Laboratory Medicine

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“…Compared to other commercially available genotyping techniques, HiFi-assay is clearly fitting the blood bank requirements in terms of safety, automation and throughput. Indeed, most of the numerous microarray-based genotyping techniques developed over the past few years (Di Cristofaro et al, 2007;Hashmi et al, 2007;Hopp et al, 2010;Karpasitou et al, 2008) are based on technologies often expensive, seldom easy to handle and difficult to integrate within highthroughput industrial blood supply processes. On the contrary, HiFi-technology main added-value remains its transfer to a fully automated, well-proven and secure high-throughput protocol.…”

Section: Application To Multiplex Blood Group Genotypingmentioning

confidence: 99%