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Ethnic distribution of allele a LELY , a low‐expression allele of red‐cell spectrin a‐gene
Author(s) -
MARECHAL J.,
WILMOTTE R.,
KANZAKI A.,
DHERMY D.,
GARBARZ M.,
GALAND C.,
TANG T. K.,
YAWATA Y.,
DELAONAY J.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb05583.x
Subject(s) - allele , genetics , exon , biology , intron , allele frequency , genotype , mutation , gene
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 Q LBLY m var j 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.