Frequencies of Band 3 variants of human red cell membranes in some different populations

Abstract

A variant of Band 3, the major protein of the erythrocyte membrane, was observed by Mueller and Morrison in 1977 in 6-7% of healthy blood donors on sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of erythrocyte membranes treated with pronase. Pronase treated red cells containing this first recognized variant [here designated 'Band 3-Memphis (m)'] section had two bands of about 63,000 and 60,000 Mr while pronase treated normal cells had only the lighter Mr band. The present study includes data on the frequency of variants resembling Band 3-Memphis in patients of different ethnic groups and on random donors obtained earlier in Memphis. These variants were detected by the original method of Mueller and Morrison and were not associated with recognized clinical or haematological abnormalities. Significantly higher gene frequencies for the variants of the (m) type were observed in American Indians, African Americans and Filipinos than in Caucasians; putative heterozygotes and homozygotes were identified among each of these groups. The frequency of silent Band 3 polymorphisms in different populations should be considered in the interpretation of clinical findings associated with the presence of Band 3 variants.

Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis

“…One of these variants is the Memphis polymorphism (rs5036), which is well documented to be variable among many widespread world populations. [34][35][36][37] Remarkably, the ancestral allele at this locus, as determined by comparison with a number of outgroup species, 34,38,39 is rare (typically less than 0.10) in all populations where the SNP is polymorphic. It is notable that the observed frequency of the ancestral Memphis allele is 0.24 in our Indonesian sample, encompassing five different haplotypes.…”

High incidence of a polymorphic variant of erythrocyte membrane protein, Band 3-Memphis, on a western Japanese island

“…It may be due to the high rate of consanguineous marriage and the small number of the examined samples. The value of 0.293 is significantly higher than those of other populations such as Caucasians (0.04), American Indians (0.098), African Americans (0.091), Chinese (0.072), Filipinos (0.1), and Mexicans (0.083) (Ranney et al, 1990). Ideguchi et al (1992) noted that a Japanese population consisted of 613 patients and I23 healthy workers of the Fukuoka University Hospital showed a high frequency (0.156) compared to other populations; however, still the frequency of the inhabitants in this island is almost twice as that of the Japanese examined by Ideguchi et al Since there was no survey focused on a small population of the Japanese, thus far it is difficult to predict how wide the population carrying Band 3-Memphis is distributed in Japan.…”

“…Sequence analysis of the amino terminal portion of Band 3-Memphis revealed that the lysine at position 56 was replaced by a glutamic acid, which is thought to lead to abnormal electrophoretic mobility on sodium dodecyl sulfate-polyacrylamide gel (SDS-PAGE) (Yannoukakos et al, 1991). Carriers of Band 3-Memphis are asymptomatic and show no morphologic abnormalities of their erythrocytes (Ranney et al, 1990). Functional analyses of erythrocytes containing Band 3-Memphis in homozygotes demonstrated that the transport rate of phosphoenolpyruvate was slightly decreased (Ideguchi et al, 1992).…”

“…Later, the variant protein that produces a 63 kDa-fragment was named Band 3-Memphis (Ranney et al, 1990). Sequence analysis of the amino terminal portion of Band 3-Memphis revealed that the lysine at position 56 was replaced by a glutamic acid, which is thought to lead to abnormal electrophoretic mobility on sodium dodecyl sulfate-polyacrylamide gel (SDS-PAGE) (Yannoukakos et al, 1991).…”

“…Some studies to examine the frequencies of Band 3-Memphis in each population have been performed, proving that Band 3-Memphis is not a rare polymorphism and that the gene frequency of Band 3-Memphis varies among different populations (0.04-0.10), with a higher frequency among the Japanese (0.156) (Ideguchi et al, 1992;Mueller and Morrison, 1977;Palatnik et al, 1990;Ranney et al, 1990). However, so far no survey has been done in a small population.…”