As alterations in GABAergic neurotransmission have been indirectly implicated in the pathogenetics of schizophrenia, GABAA receptor subunit genes are plausible candidate genes for the illness. We undertook a search for sequence variations in the coding region of beta 1 subunit gene by designing intron-based primers to amplify its 9 exons. Using single strand conformation polymorphism (SSCP) analysis, we found an exon 9 variant present in 3 of 86 unrelated schizophrenic cases derived from families having at least 2 first-degree relatives with schizophrenia. Direct sequencing of the SSCP variant revealed a C-->G nucleotide transversion at codon 396 predicting a histidine to glutamine substitution in the beta 1 peptide. The predicted amino acid substitution occurs at a highly conserved site, 9 residues from a cAMP-dependent serine phosphorylation consensus sequence. All known GABAA beta 1 subunit genes including human, bovine, and rat, code for histidine at position 396. Although the variant cosegregated with disease in a family with 2 affected sibs, it was only transmitted to 2 of 3 affected sibs in a multiplex family. The variant was not found in an additional sample comprising 155 unrelated schizophrenics and the sequence variant was present at a low frequency (approximately 1.1%) in control groups. Although these results indicate that the sequence variant is likely to be a natural polymorphism, it is possible that the variant may be a predisposing allele in rare instances. It is also possible that the variant may change the function or regulation of the GABAA receptor complex and it may be of pharmacogenetic relevance.

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Water pollution requires constant analysis and revision of water resource policy at all levels. Unfortunately, waterways are polluted by illegal dumping of urban waste, industrial waste, and a variety of human activities. Hazardous releases from industry are harmful to both human and animal health and safety. The Ravi River is the largest river in Punjab, Pakistan, and its water quality has deteriorated as a result of the inflow of municipal and industrial waste. As a result of this pollution, the aquifer environment is deteriorating. This situation necessitates an assessment of the pollution level in the Ravi and its sediments in order to make an urgent and ecological arrangement to preserve and replenish the quality of the aquifer for long-term and safe use without interfering with the natural flow of the environment. Samples of fish (Cirrhina mrigala), water, and sediment from three public fishing sites in the Ravi River, Shahdra Bridge, Saggian Bridge, and Balloki Headworks, were collected on a monthly basis from October 2015 to March 2016 to detect metal concentrations. Physico-chemical parameters viz dissolved oxygen, temperature, pH, and electrical conductivity were measured on the spot, while hardness, turbidity, and alkalinity were measured in the laboratory. The findings show that the highest concentrations of chromium (Cr) and lead (Pb) are present in water, fish organs, and river Ravi bed sediments at all three locations with statistically significant variations. Pb was slightly higher for all fish organs compared to Cr. The highest concentration of chromium in water samples was found in October 2015, while the lowest concentration was detected in February 2016. The study concludes that all types of wastewater (sewage and agricultural waste) should be treated and tested for toxic heavy

Stuttering is a broad behavioral phenotype with an adult prevalence of 0.7-1.0%. Family, twin, and segregation studies all indicate that stuttering has a large genetic component to its etiology. The relatively simple phenotype, the early onset, and the apparent rarity of phenocopies of adult stuttering all make stuttering a promising model for the study of the genetics of broad behavioral phenotypes.