Ethnic distribution of allele aLELY, a low‐expression allele of red‐cell spectrin a‐gene

Abstract

Summary. Alleleα^LELY low-expression allele of erythroid spectrin a-chain. It carries mutations both in exon 40 and intron 45 and is associated with partial skipping of exon 46. Allele α^LELY remains asymptomatic by itself. In contrast, it enhances the expression level of deleterious α-alleles occurring in trans, and as such has clinical importance. The aim of this study was to evaluate the incidence of allele _QLBLY _mvarj_ous ethnic groups, i.e. Caucasians, African Blacks, Japanese and Chinese. Allele Q^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 α^LELY appears to be an ancient and stable allele.