[Basic norms to regulate birth control].

Variegate porphyria (VP; OMIM 176200) is characterized by a partial defect in the activity of protoporphyrinogen oxidase (PPO), the seventh enzyme of the porphyrin-heme biosynthetic pathway. The disease is usually inherited as an autosomal dominant trait displaying incomplete penetrance. In an effort to characterize the spectrum of molecular defects in VP, we identified 3 distinct mutations in 6 VP families from Chile by PCR, heteroduplex analysis, automated sequencing, restriction enzyme digestion and haplotyping analysis. The mutations consisted of 2 deletions and 1 missense mutation, designated 1239delTACAC, 1330delT and R168H. The occurrence of the missense mutation R168H had been reported previously in American, German and Dutch VP families, suggesting that this may represent a frequent recurrent mutation. Interestingly, the mutation 1239delTACAC was found in patients from 4 unrelated families living in different parts of Chile, suggesting that it might represent a common mutation in Chile. Haplotype analysis using 15 microsatellite markers which closely flank the PPO gene on chromosome 1q22, spanning approximately 21 cM, revealed the presence of R168H on different haplotypes in 6 VP patients from 3 unrelated families. In contrast, we found the occurrence of 1239delTACAC on the same chromosome 1 haplotype in 11 mutation carriers from 4 unrelated families with VP. These findings are consistent with R168H representing a hotspot mutation and 1239delTACAC existing as a founder mutation in the PPO gene. Our data comprise the first genetic studies of the porphyrias in South America and will streamline the elucidation of the genetic defects in VP patients from Chile by allowing an initial screening for the founder mutation 1239delTACAC.

Chile↗

PubMed2000

Total arsenic, lead, cadmium, copper, and zinc in some salt rivers in the northern Andes of Antofagasta, Chile.

The pre-Andes water in the region of Antofagasta is the main drinking and irrigation water source for approximately 3000 Atacameña (indigenous) people. The concentration for soluble elements (filtration in field through a 0.45-microm filter) was: Cd < 0.1 ng/ml; Pb < 0.5 ng/ml; and Zn and Cu between 1 and 10 ng/ml. In particulate material the concentrations were: for Cd < 0.1 ng/ml; for Pb < 0.3 ng/ml; and for Zn and Cu less than 1 ng/ml. The total content of these elements is far below the international recommendations (WHO) and the national standards (N. Ch. 1333 mod. 1987 and 409-1 of 1984). On the other hand, in some rivers a very high arsenic concentration was found (up to 3000 ng/ml) which exceed more than 50 times the national standard. In order to verify the analytical results, inter-laboratory and comparison with different determination methods have been done.

Chile↗