Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.
A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis. The insertion locates between positions -22 and -21 from the translation termination codon TAA, causes a frame shift, and results in a stop codon located 4 codons downstream from the insertion (premature stopping of translation). The mutation generates an MspI recognition site, which can be used, in turn, to detect the mutant allele. Analysis of the cDNA fragments amplified by PCR revealed the existence of the abnormal PBG-D mRNA from the mutant allele in the patient.
Daimon
M
M
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Yamatani
K
K
Igarashi
M
M
Fukase
N
N
Morita
Y
Y
Ogawa
A
A
Tominaga
M
M
Sasaki
H
H
D000595:Amino Acid Sequence; D001483:Base Sequence; D003596:Cytosine; D017931:DNA Primers / Q000737:chemistry; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics
D017931:DNA Primers; D012333:RNA, Messenger; D003596:Cytosine; D011163:Hydroxymethylbilane Synthase