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Molecular Defect in Human Erythropoietic Protoporphyria with Fatal Liver Failure by Yoshitsugu Nakahashi; Hiroaki Miyazaki; Yoichi Kadota; Yuji Naitoh; Kyoichi Inoue; Masayuki Yamamoto; Norio Hayashi; Shigeru Taketani is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Molecular Defect in Human Erythropoietic Protoporphyria with Fatal Liver Failure about?

We investigated the molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, and defined a novel point mutation in the ferrochelatase gene. cDNAs were synthesized using Epstein-Barr-virus-transformed lymphoblastoid cells from the proband. cDNA clones encoding ferrochelatase in the proband were isolated by amplification using the polymerase chain reaction. There were two sizes of ferrochelatase cDNAs; one was normal in size, the other being smaller. Sequence analysis of the abnormally sized cDNA clones revealed that they lacked exon 9 of the ferrochelatase gene. Genomic DNA analysis demonstrated that the proband had the abnormal allele and that it contained a G to A point mutation at the first position of the donor site of intron 9. An identical mutation was detected in the affected family members of the proband by allele-specific oligonucleotide hybridization analysis. EPP is inherited in an autosomal dominant manner in this family.

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Author

Yoshitsugu Nakahashi; Hiroaki Miyazaki; Yoichi Kadota; Yuji Naitoh; Kyoichi Inoue; Masayuki Yamamoto; Norio Hayashi; Shigeru Taketani

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6717)

Published

1993

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)