Ghazanfar Ali

The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan. One hundred and ninety-six unrelated Pakistani families with ARNSHI were recruited for a study on the genetics of NSHI. DNA sequencing of the GJB2 coding region was done on two affected individuals per family. Evolutionary conservation and predicted effect on the protein product were studied in order to hypothesize whether or not a variant was potentially deleterious. Homozygous putatively functional GJB2 variants were identified in 6.1% of families. None of the putatively functional GJB2 variants were observed in the compound heterozygous state. The six putatively causative variants noted were 231G > A(W77X), 71G > A(W24X), 167delT, 95G > A(R32H), 358-360delGAG(delE120), and 269T > C(L90P), with 231G > A(W77X) and 71G > A(W24X) being the most common. In addition, five benign polymorphisms, 380G > A(R127H), 457G > A(V153I), 493C > T(R165W), 79G > A(V27I), and 341 A > G(E114G), were identified within this population. In a few individuals, benign polymorphisms were observed to occur on the same haplotype, namely [457G > A(V153I); 493C > T(R165W)] and [79G > A(V27I); 341 A > G(E114G)]. The spectrum of GJB2 sequence variants in Pakistan may reflect shared origins of hearing impairment alleles within the Indian subcontinent. The high degree of consanguinity within Pakistan may have maintained the GJB2 prevalence at a much lower rate than within India and other populations.

Abstract The tin dioxide nanoparticles (SnO 2 NPs) were fabricated via eco-friendly process using Daphne mucronata ( D. mucronata ) leaves extract as capping and reducing agent. The N 2 adsorption/desorption experiment was performed to determine the surface area by Brunauer–Emmett–Teller (BET) method and S BET was found to be 147 m 2 g −1 . The crystalline nature and lattice parameter was studied by x-ray diffraction (XRD) and calculated crystallite size is 15.63 nm. The surface morphology was examined by scanning electron microscopy (SEM) and the estimated average particle size is 64 nm. The percentage composition and purity of the SnO 2 NPs was determined by energy dispersive x-ray (EDX). The raman active modes were identified by using raman spectroscopy while functional groups upon the surface were studied by using fourier transform infrared (FTIR) spectroscopy. The photocatalytic performance of SnO 2 NPs was examined against Rhodamine 6G (R6G) and 99.70% rhodamine 6G (R6G) were degraded in 390 min with the degradation rate of 0.0148 per min. The SnO 2 NPs were screened against the selected microorganisms and the order of antimicrobial activity is given as; Gram negative bacteria (GNB) > Gram positive bacteria (GPB) > fungi.