We describe a major novel, variant RHD allele in Indians that can be easily identified routinely by implementing a simple genotyping assay. Although we may consider this variation as a weak partial D variant, further studies and observations are needed to confirm the same. These findings may contribute to improve significantly Rh blood group diagnostics in more than one billion Indians.
The study population showed the absence of the two common DEL alleles, concluding the variant to be rare. A comprehensive study with a larger sample size to look for other DEL mutations should be performed.
Overall, we report for the first time the molecular mechanisms responsible for Rh phenotype in individuals of Indian origin. This study contributes to extend the molecular spectrum of variations in Rh individuals.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.