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Glycophorin C (Gerbich antigen blood group) and band 3 polymorphisms in two malaria holoendemic regions of Papua New Guinea
Author(s) -
Patel Sheral S.,
King Christopher L.,
Mgone Charles S.,
Kazura James W.,
Zimmerman Peter A.
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10448
Subject(s) - biology , glycophorin , genetics , allele , haplotype , compound heterozygosity , loss of heterozygosity , allele frequency , microbiology and biotechnology , gene , antigen
The geographic overlap between the prevalence of erythrocyte polymorphisms and malaria endemicity is thought to be an example of natural selection on human populations. In Papua New Guinea (PNG), the Gerbich‐negative phenotype is caused by an exon 3 deletion in the glycophorin C gene ( GYPCΔex3 ) while heterozygosity for a 27‐base pair deletion in the SLC4A1 gene (anion exchanger 1 or erythrocyte membrane protein, band 3), SLC4A1Δ27 , results in Southeast Asian ovalocytosis. Two geographically and ethnically distinct malaria endemic regions of PNG (the Wosera [East Sepik Province] and Liksul [Madang Province]) were studied to illustrate the distribution of two prominent deletion polymorphisms ( GYPCΔex3 and SLC4A1Δ27 ) and to determine if the genetic load associated with SLC4A1Δ27 would constrain independent assortment of GYPCΔex3 heterozygous and homozygous genotypes. The frequency of the GYPCΔex3 allele was higher in the Wosera (0.463) than Liksul (0.176) (χ 2 ; P < 0.0001). Conversely, the frequency of the SLC4A1Δ27 allele was higher in Liksul (0.0740) than the Wosera (0.0005) (χ 2 ; P < 0.0001). No individuals were homozygous for SLC4A1Δ27 . In 355 Liksul residents, independent assortment of these two deletion polymorphisms resulted in 14 SLC4A1Δ27 carriers heterozygous for GYPCΔex3 and one SLC4A1Δ27 carrier homozygous for GYPCΔex3 (Fisher's exact test; P = 0.8040). While homozygosity for SLC4A1Δ27 appears to be nonviable, the GYPCΔex3 allele is not lethal when combined with SLC4A1Δ27 . Neither mutation was associated with altered susceptibility to asymptomatic Plasmodium falciparum or P. vivax infection. While these erythrocyte polymorphisms apparently have no effect on blood‐stage malaria infection, their contribution to susceptibility to clinical malaria morbidity requires further study. Am. J. Hematol. 75:1–5, 2004. © 2003 Wiley‐Liss, Inc.