The functional A allele was resurrected via recombination in the human ABO blood group gene

The functional A allele was resurrected via recombination in the human ABO blood group gene

• Rh Negative Facts
  

 Mike Dammann
December 14, 20200



Functional A and B alleles are distinguished at two critical sites in exon 7 of the human ABO blood group gene. The most frequent nonfunctional O alleles have one-base deletion in exon 6 producing a frameshift, and it has the A type signature in two critical sites in exon 7. Previous studies indicated that B and O alleles were derived from A allele in human lineage. In this study, we conducted a phylogenetic network analysis using six representative haplotypes: A101, A201, B101, O01, O02, and O09. The result indicated that the A allele, possibly once extinct in the human lineage a long time ago, was resurrected by a recombination between B and O alleles less than 300,000 years ago.
https://pubmed.ncbi.nlm.nih.gov/22319172/

https://www.rhesusnegative.net/staynegative/the-functional-a-allele-was-resurrected-via-recombination-in-the-human-abo-blood-group-gene/

Thanks to Mike at: https://www.rhesusnegative.net