Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO) (ital)

Article Abstract:

Alkaptonuria (AKU) mutations and polymorphisms have been analyzed from the haplotype and mutational points of view and results show that the CCC sequence motif is a mutation hot spot in the homogentisate 1,2 dioxygenase gene (HGO) (ital). Revisiting the 29 mutations and polymorphisms described for HGO (ital) found the nucleotide changes not randomly distributed and the CCC sequence motif and GGG, the inverted complement, are preferentially mutated. The nucleotide substitutions in HGO (ital) do not involve CpG dinucleotides. Important differences can be found between HGO (ital) and other genes for occurrence of mutation at specific short-sequence motifs.

Amino acid metabolism, Inborn errors of, Inborn errors of amino acid metabolism

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Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropietic protoporphyria

Article Abstract:

Erythropoietic protoporphyria (EPP) has been studied in 29 EPP patients, French and Swiss in origin. In 26 of them mutations have been found. Study has led to a significant increase in the mutation information on the ferrochelatase (FECH) gene. All of the patients, those with liver complications included, were seen to be heterozygous for the mutations seen in the FECH gene. There is new information about heredity and EPP, which is an hereditary disorder that comes from partial deficiency of the last enzyme in the heme biosynthesis pathway. EPP can be and is in most cases autosomal dominant with low clinical penetrance or autosomal recessive.

Switzerland, Physiological aspects, Liver diseases, Natural history, Enzymes, Erythropoietin, Heme, Porphyria

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Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients

Article Abstract:

Polymorphism and mutation analysis of the human homogentisate 1,2-dioxygenase (HGO) gene has been performed for alkaptonuria (AKU) patients. AKU patients are deficient in homogentisate 1,2 dioxygenase (HGO) and the human HGO gene has been cloned and two loss-of-function mutations have been characterized with 12 novel mutations identified. Insight into evolution of various AKU alleles has been gained.

United Kingdom, Italy, Netherlands

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