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

✍ Scribed by Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Atsushi Ogawa; Makoto Tominaga; Hideo Sasaki

Publisher: Springer
Year: 1993
Tongue: English
Weight: 876 KB
Volume: 92
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00420937

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✦ Synopsis

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 eDNA 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.

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