title: [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
abstract: A deficiency of methylmalonyl-CoA mutase (MCM) results in methylmalonic acidemia, which is inherited as an autosomal recessive disease and is characterized by accumulation of precursors and abnormal derivatives of methylmalonyl-CoA in body fluids. Abnormal splicing with 13 base pairs (bp) insertion at MCM exons 2 and 3 junction in MCM transcripts and a homozygous point mutation, g to a transition, on 5 bp downstream exon 2 were detected in a proband with methylmalonic acidemia. The parents in the kindred were heterozygous carriers of the g to a transition in MCM intron 2. Non-RI single strand conformation polymorphisms (SSCP) was conducted to devise for analysis of this MCM mutation. This non-RI SSCP is considered to be useful diagnostic means with high potential for extended clinical application.
authors.affiliation: Department of Clinical Pathology, Kitasato University, School of Medicine, Sagamihara.
authors.forename: Y
authors.initials: Y
authors.lastname: Toyo-Oka
authors.forename: C
authors.initials: C
authors.lastname: Wada
authors.forename: Y
authors.initials: Y
authors.lastname: Ohnuki
authors.forename: F
authors.initials: F
authors.lastname: Takada
authors.forename: H
authors.initials: H
authors.lastname: Ohtani
mesh_terms: D000328:Adult; D001483:Base Sequence; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase