A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene |
| |
Authors: | Toshihiro Ohura Kuniaki Nariwasa Keiya Tada Kazuie Iisnuma |
| |
Affiliation: | (1) Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-77 Sendai, Japan;(2) Department of Biochemical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-77 Sendai, Japan |
| |
Abstract: | Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleotide deletion of bases 3 to 6 in the 3 intron adjacent to the deleted exon, which disrupted the consensus 5 splice signal and caused exon skipping. This deletion removed one-half of a tetranucleotide direct repeat at the splice junction and presumably resulted from slipped mispairing. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|