Dataset Information

Scianna: the lucky 13th blood group system.

ABSTRACT: The Scianna system was named in 1974 when it was appreciated that two antibodies described in 1962 in fact identified antithetical antigens. However, it was not until 2003 that the protein on which antigens of this system are found and the first molecular variants were described. Scianna was the last previously serologically defined, protein-based blood group system to be characterized at the molecular level, marking the end of an era in immunohematology. This story highlights the critical role that availability of laboratory reagents for serologic testing has played in the initial characterization of a blood group and sets the stage for the development of new reagents, such as recombinant proteins, to assist in this process. The central role that genetics has played, both by classical pedigree analysis and by molecular techniques, in the discovery and characterization of this blood group is reviewed.

SUBMITTER: Brunker PA

PROVIDER: S-EPMC5189634 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Scianna: the lucky 13th blood group system.

Brunker P A R PA Flegel W A WA

Immunohematology 20110101 2

The Scianna system was named in 1974 when it was appreciated that two antibodies described in 1962 in fact identified antithetical antigens. However, it was not until 2003 that the protein on which antigens of this system are found and the first molecular variants were described. Scianna was the last previously serologically defined, protein-based blood group system to be characterized at the molecular level, marking the end of an era in immunohematology. This story highlights the critical role ...[more]

PMID: 22356519

Similar Datasets

Project description:The evolutionary history of variation in the human Rh blood group system, determined by variants in the RHD and RHCE genes, has long been an unresolved puzzle in human genetics. Prior to medical treatments and interventions developed in the last century, the D-positive (RhD positive) children of D-negative (RhD negative) women were at risk for hemolytic disease of the newborn, if the mother produced anti-D antibodies following sensitization to the blood of a previous D-positive child. Given the deleterious fitness consequences of this disease, the appreciable frequencies in European populations of the responsible RHD gene deletion variant (for example, 0.43 in our study) seem surprising. In this study, we used new molecular and genomic data generated from four HapMap population samples to test the idea that positive selection for an as-of-yet unknown fitness benefit of the RHD deletion may have offset the otherwise negative fitness effects of hemolytic disease of the newborn. We found no evidence that positive natural selection affected the frequency of the RHD deletion. Thus, the initial rise to intermediate frequency of the RHD deletion in European populations may simply be explained by genetic drift/founder effect, or by an older or more complex sweep that we are insufficiently powered to detect. However, our simulations recapitulate previous findings that selection on the RHD deletion is frequency dependent and weak or absent near 0.5. Therefore, once such a frequency was achieved, it could have been maintained by a relatively small amount of genetic drift. We unexpectedly observed evidence for positive selection on the C allele of RHCE in non-African populations (on chromosomes with intact copies of the RHD gene) in the form of an unusually high F( ST ) value and the high frequency of a single haplotype carrying the C allele. RhCE function is not well understood, but the C/c antigenic variant is clinically relevant and can result in hemolytic disease of the newborn, albeit much less commonly and severely than that related to the D-negative blood type. Therefore, the potential fitness benefits of the RHCE C allele are currently unknown but merit further exploration.

Dataset Information

Scianna: the lucky 13th blood group system.

Publications

Scianna: the lucky 13th blood group system.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets