ETHNIC DISTRIBUTION OF ALLELE ALPHA(LELY), A LOW-EXPRESSION ALLELE OF RED-CELL SPECTRIN ALPHA-GENE

Allele alpha(LELY) is a low-expression allele of erythroid spectrin alpha-chain. It carries mutations both in exon 40 and intron 45 and is associated with partial skipping of exon 46. Allele alpha(LELY) remains asymptomatic by itself, In contrast, it enhances the expression level of deleterious alpha-alleles occurring in trans, and as such has clinical importance. The aim of this study was to evaluate the incidence of allele alpha(LELY) in various ethnic groups, i.e. Caucasians, African Blacks, Japanese and Chinese, Allele alpha(LELY) occurred in all groups investigated with a fairly uniform frequency: 31%, 21%, 20% and 22%, respectively. Mutations in exon 40 and intron 45 appeared linked to one another without exception. Partial skipping of exon 46 or the low-expression feature, whenever they could be assessed, were invariably observed. Allele alpha(LELY) appears to be an ancient and stable allele.