title: Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
abstract: Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the cDNA fragments amplified by PCR revealed that the patient has the abnormal PBG-D mRNA, which does not have exon 12 and exists in an approximately equal amount to the normal mRNA.
authors.affiliation: Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Daimon
authors.forename: K
authors.initials: K
authors.lastname: Yamatani
authors.forename: M
authors.initials: M
authors.lastname: Igarashi
authors.forename: N
authors.initials: N
authors.lastname: Fukase
authors.forename: A
authors.initials: A
authors.lastname: Ogawa
authors.forename: M
authors.initials: M
authors.lastname: Tominaga
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D003596:Cytosine; D004247:DNA / Q000032:analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics*; D005260:Female; D006147:Guanine; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D006147:Guanine; D003596:Cytosine; D004247:DNA; D011163:Hydroxymethylbilane Synthase