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Objective: Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 is one of the most common and a water-soluble protein of lens’s that code for the βB2- crystallin. This study aimed to investigate the novel silent mutation in CRYBB2 of exon six in the Pakistani families of Autosomal Dominant Congenital Cataracts (ADCC). Methods: It is a family-based study that presents three to five-generations of two Pakistani families. Data and blood samples from the families were collected from January to August 2019 from LRBT (Layton Rahmatullah Benevolent Trust) Hospital, Mansehra, Pakistan. We only included patients >15 years old. Before enrollment in the current study, each patient obtained a thorough optical examination. Samples were moved to the molecular lab using the collection and storage method. The phenol-chloroform technique was used to extract the DNA. The technique of Sanger sequencing was used to find any potential mutation in some of the selected families. Statistical and bioinformatics analysis were carried out. Results: By using bioinformatics tools, the novel silent mutation was identified. Heterozygous silent mutation of CRYBB2 of exon 6 (c. 495G>A) was detected by the alignment of sequences. Computational prediction program did not predict the silent mutation. Conclusion: This study investigated a novel important sequence variant in the beta-crystalline protein that causes autosomal dominant congenital cataract (ADCC) in Pakistani families. Thus, our study enlarges the CRYBB2 mutation spectrum and associated phenotypes to help clinical diagnosis of human genetic diseases. [ABSTRACT FROM AUTHOR]

Application of phosphate solubilizing bacteria for improvement of existing pools of phosphate in soil is important for plant growth. From rain fed area of Mansehra, 14 microbes were isolated. Among these, three isolates Bacillus velezensis, Bacillus subtilis, and Bacillus safensis exhibited strong phosphate solubilizing potential, indole acetic acid (IAA) and organic acid production, and antibacterial and antibiotic resistances. Due to better phosphate solublization potential, plant growth-promoting rhizobacteria, B. velezensis was used as bio-inoculant on wheat var. Pir sabaq alone, with rock phosphate (RP) and with 50%, 75%, and 100% single super phosphate (SSP) and urea. Application of RP with B. velezensis increased 50% phosphate and nitrate in soil and 80% in leaves. Plants treated with 100% SSP + urea and B. velezensis showed 50% higher P in soil and 90% in leaves. Application with RP showed significant increases on growth indices of wheat and results were more pronounced in RP + B. velezensis and 100% SSP + urea + B. velezensis treatments. Soluble protein and sugar contents of leaves were 46% and 24% higher in RP + B. velezensis, while IAA and gibberellic acid (GA) were 34% and 54% higher. Highest increases in protein (56%), sugar (30%), IAA (50%), and GA (90%) were found in 100% SSP + urea + B. velezensis. Spike length, seeds per spike, and weight of 1000 seed were 19%, 32%, and 26% higher in RP + B. velezensis, while these increases were 39%, 52%, and 33%, respectively in 100% SSP + urea + B. velezensis treatment. Bio-inoculation of B. velezensis with RP and chemical fertilizer may be helpful for improving productivity of cereal crops and sustainable agriculture. [ABSTRACT FROM AUTHOR]