High‐throughput multiplex single‐nucleotide polymorphism analysis for red cell and platelet antigen genotypes

Denomme, Gregory A.; Oene, Mark Van

doi:10.1111/j.1537-2995.2005.04365.x

Cited by 130 publications

(110 citation statements)

References 29 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

383

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

383

349

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“…All SNPs selected through the Stram method, except I1C (+128), were in common to both methods. These 16 SNPs, plus four nonsynonymous coding SNPs (C400T Arg 134 Cys, G1556A Arg 519 His, G1743A Met 581 Ile, and C1958T Thr 653 Met), were genotyped using the SNPstream platform (Beckman Coulter, Fullerton, CA) as described elsewhere (9). MTHFR polymorphisms within exons and in 5 ¶ and 3 ¶ untranslated regions were numbered by designating the 'A' in the translation initiation codon for the cDNA encoding the 70-kDa isoform as position (+1).…”

Section: Methodsmentioning

confidence: 99%

Methylenetetrahydrofolate Reductase Haplotype Tag Single-Nucleotide Polymorphisms and Risk of Breast Cancer

Martin¹,

Olson²,

Ingle³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…This system and its accompanying SNPstream software has been described by Demomme and Van Oene [23]. PCR was performed on an ABI Gene Amp 9700 thermal cycler (Applied Biosystems, Foster City, CA, USA) using Taq Gold DNA polymerase.…”

Section: Selection Of Polymorphisms and Genotypingmentioning

confidence: 99%

The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women

Tong

Lee

Song

et al. 2009

Cancer Causes Control

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The purpose of the study was to investigate the association between cervical cancer risk and single-nucleotide polymorphisms (SNPs) in three one-carbon metabolism genes, methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) in Korean women. Twelve SNPs were identified in MTHFR, MTR, and MTRR in the 927 casecontrol samples, which included 165 cervical intraepithelial neoplasia 1 (CIN1), 167 cervical intraepithelial neoplasia 2 and 3 (CIN2/3), 155 cervical cancer patients, and 440 normal controls. The frequencies of the genotypes and haplotypes were assessed in the controls, CINs, and cervical cancers. Individual carriers of the variant allele C of MTHFR A1298C (rs1801131) had a 0.64-fold [95% confidence interval (CI): 0.42-0.98] decreased risk for CIN2/3 compared with common homozygotes. However, no significant association was found between most other variants and cervical cancer risk. The results also identified an increased CIN1 risk in carriers with at least one copy of haplotype 3 in the MTHFR gene (odds ratio, 1.88; 95% CI: 1.03-3.42). In conclusion, there was no significant association between most SNPs in MTHFR, MTR, or MTRR and the risk of CIN and cervical cancer in Korean women. In addition, there was no significant association of MTHFR haplotypes with risk of CIN2/3 and cervical cancer.

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High‐throughput multiplex single‐nucleotide polymorphism analysis for red cell and platelet antigen genotypes

Abstract: The platform has the capacity to genotype thousands of samples per day. The suite of SNPs provides genotype data for all blood donors within 36 hours of the start of testing.

Cited by 130 publications

References 29 publications

The relationship between blood groups and disease

The relationship between blood groups and disease

Methylenetetrahydrofolate Reductase Haplotype Tag Single-Nucleotide Polymorphisms and Risk of Breast Cancer

The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women

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