Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans

British Journal of Haematology
J DelaunayG Tchernia

Abstract

The family of two siblings with severe hereditary spherocytosis was investigated. The decrease was evident on both the alpha- and the beta-chains. The parents were haematologically normal. The mother was heterozygous for the low-expression polymorphic allele alphaLEPRA. The father was heterozygous for a novel combination in which one allele showed the alpha-spectrin low expression polymorphic allele alphaLELY, while his other allele showed the alphaLELY polymorphism in cis with a G-->A substitution, named Bicêtre, found at the extreme 3' end of exon 51. This combination was designated alpha(LELY-Bicêtre). The children were compound heterozygotes for alleles alphaLEPRA and alpha(LELY-Bicêtre). Reverse transcription polymerase chain reaction detected only trace amounts of the mRNA coding for alpha(LELY-Bicêtre). Mutation is therefore an essentially null mutation with no functional protein product. The lack of disease in the alphaLELY/(LELY-Bicêtre) father compared with the marked haemolysis in the alphaLEPRA/alpha(LELY-Bicêtre) children showed that expression of allele alphaLELY is not low enough to expose null alpha-spectrin alleles on the other chromosome. Quantitative estimations from these findings suggest that, to evoke sphe...Continue Reading

References

Jul 1, 1995·British Journal of Haematology·J MaréchalJ Delaunay
Nov 15, 1996·The Journal of Clinical Investigation·H WichterleP Jarolim
Mar 12, 1998·American Journal of Hematology·D S BassèresS T Saad

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Citations

May 15, 2013·Blood Reviews·Lydie Da CostaNarla Mohandas
May 30, 2006·Blood Reviews·Jean Delaunay
Feb 7, 2018·Acta Haematologica·Ben-Jin HeFa-Quan Lin
Aug 1, 2019·British Journal of Haematology·Achille IolasconRoberta Russo
May 1, 2019·The Journal of Clinical Investigation·Patrick G GallagherVincent P Schulz
Jul 10, 2020·Orphanet Journal of Rare Diseases·Lamisse Mansour-HendiliFrédéric Galactéros
Jul 25, 2019·Frontiers in Physiology·Satheesh ChonatTheodosia A Kalfa
Feb 28, 2018·Molecular Medicine Reports·Shiyue MaFaquan Lin
Nov 19, 2013·Pediatric Clinics of North America·Patrick G Gallagher

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