Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

M Daimon; K Yamatani; M Igarashi; N Fukase; A Ogawa; M Tominaga; H Sasaki

doi:10.1007/BF00420937

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

Hum Genet. 1993 Dec;92(6):549-53. doi: 10.1007/BF00420937.

Authors

M Daimon¹, K Yamatani, M Igarashi, N Fukase, A Ogawa, M Tominaga, H Sasaki

Affiliation

¹ Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.

PMID: 8262514
DOI: 10.1007/BF00420937

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.

MeSH terms

Adult
Alleles
Base Sequence
Cytosine*
DNA / analysis
DNA Primers
Electrophoresis, Polyacrylamide Gel
Exons / genetics*
Female
Guanine*
Humans
Hydroxymethylbilane Synthase / genetics*
Molecular Sequence Data
Pedigree
Point Mutation*
Polymerase Chain Reaction
Porphyria, Acute Intermittent / enzymology
Porphyria, Acute Intermittent / genetics*
RNA, Messenger / genetics

Substances

DNA Primers
RNA, Messenger
Guanine
Cytosine
DNA
Hydroxymethylbilane Synthase