[Repair of the splicing defect of thalassemic allele beta IVS-2-654 C-->T in cultured human erythroid cells by antisense RNA]. 1997

X Gu, and L Gong, and W Zhang
Shanghai Institute of Medical Genetics, Shanghai Children's Hospital.

OBJECTIVE To investigate the repair of the splicing defect of thalassemic allele beta IVS-2-654 C-->T (beta 654) in cultured human adult erythroid cells (hAE) by antisense RNA A2. METHODS Vectors expressing antisense RNA fragments A2 which targeted against the aberrant splice sites of beta 654 pre-mRNA were introduced into hAE by lipid-mediated DNA-transfection method. Quantitation of beta-globin mRNA by RT-PCR and micro-biosynthesis of globin chain assay were used to measure the expression of globin genes in hAE from day 0 to day 8 after transfection. Meanwhile, hAE transfected with random antisense sequence was used as control. RESULTS Antisense RNA A2 treatment restored the correct splicing of beta 654 pre-mRNA. The proportions of correctly spliced beta-globin mRNA (beta/beta + beta*) increased from 0.024 (before transfection) to 0.380 (8th day after transfection) in hAE obtained from individual with beta 654/ beta 41-42 mutations and, from 0.396 to 0.883 in hAE obtained from individual with beta 654/beta A genotype. Correspondently, microglobin biosynthesis of chain revealed that the ratio of beta/alpha increased from 0.052 to 0.359 in the former and, from 0.624 to 0.820 in the later case, respectively. There was no difference with or without antisense RNA A2 treatment on hAE obtained from normal controls. CONCLUSIONS Antisense RNA A2 treatment could restore efficiently the correct splicing of beta 654 pre-mRNA and, consequently improve the imbalance of globin chains in thalassemic cells. This method is of potential clinical interest in gene therapy of the disease.

UI MeSH Term Description Entries
D008297 Male Males
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004260 DNA Repair The removal of DNA LESIONS and/or restoration of intact DNA strands without BASE PAIR MISMATCHES, intrastrand or interstrand crosslinks, or discontinuities in the DNA sugar-phosphate backbones. DNA Damage Response
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D012326 RNA Splicing The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. RNA, Messenger, Splicing,Splicing, RNA,RNA Splicings,Splicings, RNA

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