Evolutionary genetics of the human Rh blood group system

Perry, George H.; Xue, Yali; Smith, Richard S.; Meyer, Wynn K.; Çalışkan, Minal; Yanez-Cuna, Omar; Lee, Arthur S.; Gutiérrez‐Arcelus, María; Ober, Carole; Hollox, Edward J.; Tyler‐Smith, Chris; Lee, Charles

doi:10.1007/s00439-012-1147-5

Cited by 17 publications

(24 citation statements)

References 48 publications

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“…They lack the amino acids conserved in other Rh -family proteins, including RhAG, that are considered essential to gas transport. Analysis of genomic data provided no evidence to support any effects of selection on the RHD deletion [695] . They could, however, be involved in gas movement by increasing the surface area -to -volume ratio of red cells [681] .…”

Section: Rhd and Rhcementioning

confidence: 94%

Rh and RHAG Blood Group Systems

Daniels

2013

Human Blood Groups

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Section: Rhd and Rhcementioning

confidence: 94%

Rh and RHAG Blood Group Systems

Daniels

2013

Human Blood Groups

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“…All samples were collected with the appropriate informed consent and the project obtained the ethics approval from the local Institutional Review Board, Comitè Ètic d'Investigació Clínica-Institut Municipal d'Assistència Sanitària (CEIC-IMAS) in Spain (2013/5429/I). In order to compare the Rh data in our samples with other populations, we included previously published HapMap samples from 22 Yorubans (YRI), 21 Han Chinese (CHB) and 20 Central Europeans (CEU) analyzed for the Rh system [23]. The chimpanzee sequence mapped on the human genome GRCh37/hg19 from the UCSC database [24] was used as an outgroup for some of the analyses.…”

Section: Sample Collectionmentioning

confidence: 99%

“…RHCE SNPs rs676782 (C/c; polymorphism P103S) and rs609320 (E/e; polymorphism A226P) were genotyped as in Perry et al [23], performing a co-amplification of the surrounding regions, with FAM and HEX dye-labeled primers, and then a digestion of the products with MnlI restriction enzyme, whereas the RHD deletion was determined through a TaqMan quantitative PCR assay performed as in Perry et al [23]. Since the RhD negative variant is due to the deletion of the RHD gene and both RHD and RHCE present a high sequence identity, we have focused our analysis on the flaking regions of these genes.…”

Section: Genotyping and Sequencing Of The Rh Regionmentioning

confidence: 99%

“…Since the RhD negative variant is due to the deletion of the RHD gene and both RHD and RHCE present a high sequence identity, we have focused our analysis on the flaking regions of these genes. We sequenced two regions of 6 kilobases (kb) each, upstream and downstream of the RHD gene outside the Rhesus boxes (GRCh37/hg19 coordinates chr1:25578836-chr1:25585562 and chr1:25664732-chr1:25671293, respectively) as delimited by Perry et al [23], and a region of 6 kb downstream the RHCE gene (chr1:25682780-chr1:25688684). We amplified these three regions following a Long Touchdown PCR protocol using the primers by Perry et al [23].…”

Section: Genotyping and Sequencing Of The Rh Regionmentioning

confidence: 99%

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Sequence diversity of the Rh blood group system in Basques

et al. 2018

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Basques show specific cultural, demographic, and genetic characteristics that have placed them as an isolated and unique population within Europe, such as their non-Indo-European language, Euskara. They have historically lived along the Western Pyrenees, between Spain and France, in one of the most important European glacial refugia during the Last Glacial Maximum. The most striking genetic characteristic is their highest frequency of the RhD blood group negative allele, a variant related to the hemolytic disease of the newborn. Both demographic and adaptive processes have been suggested as possible causes of the high frequency of RhD negative in Basques, but neither hypothesis has been clearly demonstrated. While previous studies on the Rh system in Basques have been mostly focused on serological and genotyping diversity, in this work we analyze genotyping and next generation sequencing data in order to provide a general framework of the genetic scenario of the system in Basques. In particular, we genotyped the most relevant variants of the system (D/d, E/e, and C/c), and sequenced three ~6 kb flanking regions surrounding the Rh genes in Basques and also in other populations for comparison. Our results are in agreement with previous studies, with Basques presenting the highest frequency of the RHD deletion (47.2%). Haplotype analyses of D/d, E/e, and C/c variants confirmed an association between the RhC allele, previously suggested to be under positive selection, and the RhD positive variant in non-sub-Saharan populations, including Basques. We also found extreme differentiation for the C/c variant when comparing sub-Saharan to non-sub-Saharan populations.

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“…Anti-D is the most important cause of hemolytic disease of the newborn. Before the advent of anti-D prophylaxis, this disease occurred in a frequency of up to 1:23 among Rh-negative women [16]. Rh prophylaxis does not work in pre-immunized women.…”

Section: A General View On Anti-d Immunizationmentioning

confidence: 99%

<b><i>RHD</i></b> PCR of D-Negative Blood Donors

Wagner¹

2013

Transfus Med Hemother

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RHD PCR of blood donors may be used to reveal weak D, partial D, DEL and chimeric D+/D- donors among presumed D-negative blood donors. Units donated by such donors pose a definite yet low risk for anti-D immunization of transfusion recipients. The frequency of DEL donors among D-negative donors is 1:350 to 1:2,000 in Europe and up to 1:5 in Asian countries. Different strategies for RHD PCR of blood donors have been used. Probably, the most cost-efficient implementation is replacement of sensitive D antigen testing with the indirect antiglobulin test by RHD PCR in pools which might even reduce total testing cost.

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Evolutionary genetics of the human Rh blood group system

Cited by 17 publications

References 48 publications

Rh and RHAG Blood Group Systems

Rh and RHAG Blood Group Systems

Sequence diversity of the Rh blood group system in Basques

<b><i>RHD</i></b> PCR of D-Negative Blood Donors

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