In:
Transfusion Medicine and Hemotherapy, S. Karger AG, Vol. 47, No. 4 ( 2020), p. 326-336
Abstract:
The U antigen (MNS5) is one of 49 antigens belonging to the MNS blood group system (ISBT002) carried on glycophorins A (GPA) and B (GPB). U is present on the red blood cells in almost all Europeans and Asians but absent in approximately 1.0% of Black Africans. U negativity coincides with negativity for S (MNS3) and s (MNS4) on GPB, thus be called S–s–U–, and is thought to arise from homozygous deletion of 〈 i 〉 GYPB 〈 /i 〉 . Little is known about the molecular background of these deletions. Bioinformatic analysis of the 1000 Genomes Project data revealed several candidate regions with apparent deletions in 〈 i 〉 GYPB 〈 /i 〉 . Highly specific Gap-PCRs, only resulting in positive amplification from DNAs with deletions present, allowed for the exact genetic localization of 3 different breakpoints; 110.24- and 103.26-kb deletions were proven to be the most frequent in Black Americans and Africans. Among 157 CEPH DNAs, deletions in 6 out of 8 African ethnicities were present. Allele frequencies of the deletions within African ethnicities varied greatly and reached a cumulative 23.3% among the Mbuti Pygmy people from the Congo. Similar observations were made for U+ 〈 sup 〉 var 〈 /sup 〉 alleles, known to cause strongly reduced GPB expression. The 110- and 103-kb deletional 〈 i 〉 GYPB 〈 /i 〉 haplotypes were found to represent the most prevalent hereditary factors causative of the MNS blood group phenotype S–s–U–. Respective 〈 i 〉 GYPB 〈 /i 〉 deletions are now accessible by molecular detection of homo- and hemizygous transmission.
Type of Medium:
Online Resource
ISSN:
1660-3796
,
1660-3818
Language:
English
Publisher:
S. Karger AG
Publication Date:
2020
detail.hit.zdb_id:
2100533-3
