title: No effects of a synonymous variant within the CD59 gene on its protein product in duodenal biopsies of coeliac individuals.
abstract: A novel rare variant within the CD59 gene was linked with coeliac disease in a family with high incidence of disease. Functional analyses of this variant were performed using complementary DNA analysis and protein analysis in paraffin-embedded duodenal biopsies from affected individuals and controls. No effects on pre-mRNA or size of linear protein were observed, although these results do not exclude the possible effects of this variant on co-translational protein folding.
authors.affiliation: Institute of Healthcare, Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta. cas@biotech.um.edu.mt
authors.forename: C A
authors.initials: CA
authors.lastname: Scerri
authors.forename: A
authors.initials: A
authors.lastname: Xuereb-Anastasi
authors.forename: C
authors.initials: C
authors.lastname: Vidal
mesh_terms: D001706:Biopsy; D015153:Blotting, Western; D018957:CD59 Antigens / Q000235:genetics* / Q000378:metabolism; D002446:Celiac Disease / Q000235:genetics* / Q000378:metabolism; D004386:Duodenum / Q000473:pathology*; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D012322:RNA Precursors / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018957:CD59 Antigens; D012322:RNA Precursors