PMID: 9450796Feb 5, 1998Paper

A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)

British Journal of Haematology
M GarbarzD Dhermy

Abstract

We studied a family with autosomal dominant hereditary spherocytosis (HS) associated with a mild spectrin deficiency. Linkage analysis using two microsatellite markers (D14S63 and D14S271) very close to the beta-spectrin gene (SPTB) showed that HS co-segregated with alleles of these microsatellite markers and the linkage between the marker and HS was statistically significant. The presence of a beta-spectrin protein polymorphism (beta-spectrin Vay; A1880V) in trans of the HS allele was not itself deleterious, but allowed the detection of decreased membrane expression of the spherocytic beta-spectrin allele in two HS-affected subjects. Direct sequencing of the coding exons of the beta-spectrin gene in one affected subject showed the presence of a G-->C transversion at the terminal nucleotide of exon 3, which did not change the leucine codon 100 (CTG-->CTC). The presence of the mutation was confirmed by restriction enzyme digestion at the DNA level in all affected SH members of the family. The G-->C mutation severely reduced the utilization of the 5' splice site and resulted in aberrant mRNA splicing with intron 3 retention.

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Citations

Feb 23, 1999·British Journal of Haematology·W T Tse, S E Lux
May 28, 2013·Current Translational Geriatrics and Experimental Gerontology Reports·Xiao-Xin YanA Jeromin
Aug 4, 2004·British Journal of Haematology·P H B Bolton-MaggsUNKNOWN General Haematology Task Force of the British Committee for Standards in Haematology
Jun 23, 2009·British Journal of Haematology·Monika MaciagBeata Burzyńska
Aug 20, 2002·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·D S BassèresS T O Saad
Feb 7, 2018·Acta Haematologica·Ben-Jin HeFa-Quan Lin
Aug 1, 2019·British Journal of Haematology·Achille IolasconRoberta Russo
Jan 15, 1999·Blood Cells, Molecules & Diseases·P G Gallagher, B G Forget

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