POINT MUTATIONS IN THE UROPORPHYRINOGEN-III SYNTHASE GENE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS-DISEASE)
- 1 May 1990
- journal article
- research article
- Vol. 75 (9) , 1763-1765
Abstract
Congenital erythropoietic porphyria (Gunther''s disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the first patient, complementary DNA was specificially amplified using the polymerase chain reaction and subsequently cloned and sequenced. Data obtained revealed the coexistence of two distinct point mutations: a T to C change in codon 73 (arginine in place of a cysteine) and a C to T change in codon 53 (leucine in place of a proline). The second case was studied by hybridization with allele specific oligonucleotides and was found to be homozygous for the same mutation in codon 53. These are the first mutations to be recognized in the uroporphyrinogen III synthase gene from congenital erythropoietic porphyria patients.This publication has 3 references indexed in Scilit:
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- Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.Journal of Clinical Investigation, 1983
- CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS DISEASE) - ENZYMATIC STUDIES ON 2 CASES OF LATE ONSET1981