Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U-in Black Africans

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 GYPB. 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 GYPB. 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- A nd 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+var alleles, known to cause strongly reduced GPB expression. The 110- A nd 103-kb deletional GYPB haplotypes were found to represent the most prevalent hereditary factors causative of the MNS blood group phenotype S-s-U-. Respective GYPB deletions are now accessible by molecular detection of homo- A nd hemizygous transmission.

Denomme, Gregory A.BloodCenter of Wisconsin (author)
Portmann, ClaudiaBlood Transfusion Service Zürich (author)
Bensing, Kathleen M.BloodCenter of Wisconsin (author)
Mattle-Greminger, Maja P.Blood Transfusion Service Zürich (author)
Meyer, StefanBlood Transfusion Service Zürich (author)
Trost, NadineBlood Transfusion Service Zürich (author)
Song, Young LanBlood Transfusion Service Zürich (author)
Engström, CharlotteBlood Transfusion Service Zürich (author)
Denomme, Gregory ABloodCenter of Wisconsin (author)
Jungbauer, ChristofBlood Service for Vienna (author)
Just, BurkhardGerman Red Cross Blood Donation Service West (author)
Storry, Jill R.Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)tran-jst (author)
Forster, MichaelUniversity of Kiel (author)
Franke, AndreUniversity of Kiel (author)
Frey, Beat M.Blood Transfusion Service Zürich (author)
Blood Transfusion Service ZürichBloodCenter of Wisconsin (creator_code:org_t)

In:Transfusion Medicine and Hemotherapy: S. Karger AG47:4, s. 326-3361660-37961660-3818

By the author/editor: Gassner, Christo ...; Denomme, Gregory ...; Portmann, Claudi ...; Bensing, Kathlee ...; Mattle-Greminger ...; Meyer, Stefan; show more...; Trost, Nadine; Song, Young Lan; Engström, Charlo ...; Denomme, Gregory ...; Jungbauer, Chris ...; Just, Burkhard; Storry, Jill R.; Forster, Michael; Franke, Andre; Frey, Beat M.; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Hematology

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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