A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. Methods: The entire coding region of paired box gene 6 (PAX6) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database. Results: A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. Conclusions: Our findings suggest that this novel mutation is most likely responsible for the pathogenesis of the congenital aniridia, cataract, and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation of PAX6 gene in a kindred pedigree with various ocular abnormalities. Keywords: PAX6 nonsense mutation, Polymerase chain reaction, Congenital aniridia, Cataract, Nystagmu

The study of contamination of discharged runoff from surface water disposal channels of Bushehr city in 2012-2013

Background: In coastal cities, wastewater discharge into the sea is one of the options for sewage disposal that in case of non-compliance with health standards  in wastewater disposal will be led to the spread of infection and disease. On the other hand, water resources preservation and using them efficiently are the principles of sustainable development of each country. This study was aimed to investigate the contamination of discharged runoff from the surface water disposal channels of Bushehr city in 2012 - 13. Materials and Methods: In this study, Sampling was conducted by composite sampling method from output of the five main surface water disposal channels leading to the Persian Gulf located in the coastal region of Bushehr city during two seasons including wet (winter) and dry (summer) in 2012- 13. Then, experimental tests of BOD5, total coliform and fecal coliform were done on any of the 96 samples according to the standard method. Results: Analysis of the data showed that the BOD5, total coliform and fecal coliform of effluent runoff of the channels were more than the national standard output of disposal wastewaters into the surface waters, and the highest and lowest amount of BOD5 which obtained were 160 mg/L and 28 mg/L, respectively. Conclusion: considering the fact that discharged runoff from surface water disposal channels link from shoreline to sea in close distance and they often are as natural swimming sites and even fishing sites of Bushehr city, and also according to high level of organic and bacterial load of these channels, it is urgently required to be considered by the authorities