Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping |
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Authors: | Makoto Daimon Keiichi Yamatani Masahiko Igarashi Norio Fukase Atsushi Ogawa Makoto Tominaga Hideo Sasaki |
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Institution: | (1) Third Department of Internal Medicine, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, 990-23 Yamagata, Japan |
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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. |
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