PubMed · 11618332
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
M D Grmek. 1990. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11618332/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes. The commonest mutation, R408W on haplotype 2 was found with a relative frequency of 37 %. P281L accounted for 11 %, R261Q and E390G each for 9 % of mutant chromosomes. There were three novel mutations: L249P (c.746T>C) in exon 7, IVS8+2T>C (c.912T>C) in intron 8, and F402L (c.1206T>G) in exon 12 of the PAH gene. Two known PKU mutations were found in cis on the same chromosome in one family, highlighting the need to perform full mutation scanning in recessive disease genes for molecular diagnosis even if two known mutations have been identified in a patient. This is the first comprehensive report on PKU mutations in southeastern Europe, adding to the growing bulk of molecular data for population genetic investigations.
The article presents the results of investigations carried out on the 42 km long Vrgorska Matica River, which flows through the 15 km long Vrgorsko polje (polje = field) which covers an area of 3000 ha, and is at 24 m a.s.l., located in Southern Croatia. It covers the years 1997-2000 after this field had been reclaimed for agricultural use. The purpose of the investigations was to evaluate the influence of the Vrgorska Matica River which is part of the catchment area of the Trebizat River, on the water quality in Modro Oko Lake and Prud Spring, which are used for water supply and are located downstream of the Vrgorska Matica River on the right bank of the Neretva River. The water quality was evaluated by using the quality index based on the following nine parameters: temperature, mineralization, corrosion coefficient, K = (Cl + SO4)/HCO3, dissolved oxygen, BOD5, total N, protein N, total phosphorus and total coliform bacteria (100 mL)-1 (MPN coli (100 mL)-1) for which concentrations C95 are calculated. After completing the nine parameters the results of C95 were recorded and transferred to the score table to obtain the q-value. The q-value used is an attempt to quantify environmental factors which would otherwise be qualitative. For each parameter the q-value was multiplied by a weighting factor based upon the relative significance of the parameter. The nine resulting scores values were then added to arrive at an overall water quality index (sigmaS95). According to this index the water can be classified into four categories. The first category, according to the Croatian Water Classification Act (Official Bulletin No. 77,1998), includes ground and surface waters used for drinking or in the food industry either in its natural state or after disinfection, and surface water used for raising high-quality species of fish, ranging from 85-100 scores; the second category includes water used in its natural state for swimming and recreation, sports or for other species of fish and the treated water used for drinking and other industrial purposes ranging between 70-85 scores. The third category includes water used in industry with no specific requests upon water quality and in agriculture ranging from 50-70 scores; the fourth category includes water used only after being treated in areas with water shortage which is less than 50 scores. According to results obtained by investigations, the water of the Vrgorska Matica River and Prud Spring falls into the second (II) category, while water from the Modro Oko Lake belongs to the first (I) category. This means that the Matica River water does not influence the water quality of the Modro Oko Lake. This lake water quality is influenced by the Rastocka Matica River from the Rastocko polje which is located upstream from the Vrgorska Matica River. This has been proved by dyeing tests.
The processes of globalization and transition are inevitable, full of dangers and threats, but offer enormous opportunities. Surveys of public opinion show that citizens are not aware of the fact that their countries are governed by the will of the people and a large majority considers that their country and the world are not going in the right direction. Presently, knowledge is becoming a dominant political power. This article outlines a strategy for building a knowledge-based society to minimize dangers, avoid threats, and take advantage of most of the opportunities, bringing a concrete action plan for Croatia, applicable to countries with similar history and socioeconomic structure.