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Titolo:
ETHNIC DISTRIBUTION OF ALLELE ALPHA(LELY), A LOW-EXPRESSION ALLELE OFRED-CELL SPECTRIN ALPHA-GENE
Autore:
MARECHAL J; WILMOTTE R; KANZAKI A; DHERMY D; GARBARZ M; GALAND C; TANG TK; YAWATA Y; DELAUNAY J;
Indirizzi:
INST PASTEUR LYON,GENET MOLEC HUMAINE LAB,CNRS,URA 1171 F-69365 LYON 07 FRANCE KAWASAKI MED UNIV,DEPT MED,DIV HAEMATOL KURASHIKI OKAYAMA JAPAN UNIV PARIS 07,INSERM,U409 PARIS FRANCE ACAD SINICA,INST BIOMED SCI TAIPEI TAIWAN
Titolo Testata:
British Journal of Haematology
fascicolo: 3, volume: 90, anno: 1995,
pagine: 553 - 556
SICI:
0007-1048(1995)90:3<553:EDOAAA>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
SP-ALPHA-I/65 HEREDITARY ELLIPTOCYTOSIS; MEMBRANE-PROTEINS; NORTH-AFRICA; I DOMAIN; MUTATIONS; IDENTIFICATION; SITE; RNA;
Keywords:
ETHNIC GROUPS; ALLELE ALPHA(LELY); SPECTRIN ALPHA-GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
J. Marechal et al., "ETHNIC DISTRIBUTION OF ALLELE ALPHA(LELY), A LOW-EXPRESSION ALLELE OFRED-CELL SPECTRIN ALPHA-GENE", British Journal of Haematology, 90(3), 1995, pp. 553-556

Abstract

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 invariablyobserved. Allele alpha(LELY) appears to be an ancient and stable allele.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 14:58:13