Abstract:
:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The first patient, who underwent liver transplantation because of terminal liver failure, was identified as having a single point mutation (C to T) at nucleotide 175 that resulted in a Gln to stop codon conversion in one allele of the gene. In the second case, in which the patient has so far no liver involvement, a two-base deletion (T899G900) was found in one allele. Frameshift as a result of the deletion creates a stop codon. This study presents two new genotypes of EPP, including one with liver failure, a rare and fatal form of EPP.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EIdoi
10.1007/BF00201578subject
Has Abstractpub_date
1994-06-01 00:00:00pages
711-3issue
6eissn
0340-6717issn
1432-1203journal_volume
93pub_type
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