Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.

Abstract

Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts ofSoutheast Asia.

Population genetics of malaria resistance in humans

“…One mutation in this gene, found in Papua New Guinea and Malaysia, is due to a 27-nucleotide (9-amino-acid) deletion in a region that is highly conserved throughout species (Jarolim et al, 1991). This deletion results in an abnormal protein structure and function and causes ovalocytosis, an abnormal shape of red blood cells (it is known as Southeast Asian ovalocytosis, or SAO), and mild hemolytic anemia in the heterozygote.…”

Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis

“…The molecular basis for SAO was recently identified as a heterogeneous presence of an altered erythrocyte band 3 protein, which lacked nine amino acids (residues 400-408) at the boundary between cytoplasmic and membrane domains (Jarolim et al, 1991). As far as we know, the same mutation has been described in ovalocytosis not only from Malaysia, the Philippines, and Papua New Guinea (Tanner et al, 1991;Mohandas et al, 1992) but also from Mauritius (Schofield et aI., 1992b).…”

“…DNA sample was extracted from dried blood cells by standard phenol/chloroform extraction methods and used as a template for polymerase chain reaction (PCR) amplification. To determine a mutation in the band 3 gene, we first tried to screen the same deletion mutation as reported before (Jarolim et al, 1991). For this, 175 bp long region spreading from nt.…”

“…166 of band 3 cDNA, which is found in a asymptomatic band 3 variant known as the Memphis variant (Jarolim et al, 1992), has been reported to link with a deletion of codons 400-408 of band 3 protein (Jarolim et al, 1991;Schofield et al, 1992b;Mohandas et al, 1992). In the index case, the region around nt.…”

Genetic disorders of the red cell membranes

“…The main biochemical feature, then, is the lack of protein 4.2 whereas the amount of AE1 is normal (or nearly so). A deletion of 9 nt [23,24], involving the very junction of the AE 1 cytoplasmic and membrane domains, is the cause of Southeast Asian ovalocytosis in the heterozygous state (the homozygous state must be lethal).…”