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- Title
Different impacts of allelesα<sup> LEPRA</sup> andα<sup> LELY</sup> as assessedversusa novel, virtually null allele of theSPTA1gene intrans.
- Authors
Delaunay, J.; Nouyrigat, V.; Proust, A.; Schischmanoff, P.-O.; Cynober, T.; Yvart, J.; Gaillard, C.; Danos, O.; Tchernia, G.
- Abstract
The family of two siblings with severe hereditary spherocytosis was investigated. The decrease was evident on both the α- and the β-chains. The parents were haematologically normal. The mother was heterozygous for the low-expression polymorphic allele αLEPRA. The father was heterozygous for a novel combination in which one allele showed the α-spectrin low expression polymorphic allele αLELY, while his other allele showed the αLELY polymorphism in cis with a G → A substitution, named Bicére, found at the extreme 3′ end of exon 51. This combination was designated αLELY-Bicére. The children were compound heterozygotes for alleles αLEPRA and αLELY-Bicére. Reverse transcription polymerase chain reaction detected only trace amounts of the mRNA coding for αLELY-Bicére. Mutation αLELY-Bicére is therefore an essentially null mutation with no functional protein product. The lack of disease in the αLELY/αLELY-Bicére father compared with the marked haemolysis in the αLEPRA/αLELY-Bicére children showed that expression of allele αLELY is not low enough to expose null α-spectrin alleles on the other chromosome. Quantitative estimations from these findings suggest that, to evoke spherocytosis, it is necessary that α-spectrin expression must be reduced to less than 25% of normal, while a reduction to 8% is sufficient.
- Subjects
GENETIC research; CYTOSKELETAL proteins; PROTEINS; GENE expression; HEREDITY; GENES
- Publication
British Journal of Haematology, 2004, Vol 127, Issue 1, p118
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2004.05160.x