Browsing by Author "Saini, S."

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    A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
    (2012) Saini, S.; Robinson, P.N.; Singh, J.R.; Vanita, V.
    To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. A genome-wide scan by 2-point linkage analysis using nearly 400 fluorescently labeled microsatellite markers in combination with multipoint lod score and haplotype analysis was carried out. Mutation screening was performed in the candidate gene by bidirectional sequence analysis of the amplified products. A maximum 2-point lod score of 3.553 at theta = 0.0 was obtained with marker D19S572. Haplotype analysis placed the RP locus distal to marker D19S572, in close proximity to the gene for pre-mRNA processing factor 31 (PRPF31) at 19q13.42. Mutation screening in all 14 exonic regions and adjacent flanking intronic sequences of PRPF31 revealed a novel 7 bp deletion, c.59_65del7 (p.Gly20AlafsX43), in the first coding exon of PRPF31. This leads to a premature termination codon (PTC) in the next exon, 43 amino acids downstream. The observed 7 bp deletion in PRPF31 was identified in all the tested 10 affected members and in an unaffected individual, consistent with a high, but not the complete penetrance of c.59_65del7 (p.Gly20AlafsX43). This deletion was not observed in other tested six unaffected family members or in 100 ethnically matched control subjects. The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval. Since the mutant PRPF31 is truncated relatively close to the N-terminus of the protein, haploinsufficiency rather than aberrant protein formation is likely to be the underlying mechanism of the disease. The present findings further substantiate the role of PRPF31 that encodes a component of the spliceosome complex in relation to ADRP. ? 2012 Elsevier Ltd.
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    Segregated receive and relay scheme for communication in wireless sensor networks
    (Institute of Electrical and Electronics Engineers Inc., 2015) Saini, S.; Khurana, S.S.
    A Wireless Sensor Network (WSN) is a set of self-powered sensor nodes. These nodes are deployed in infrastructure less mode to collect the useful information from the environment and transmit it to the sink node. The significance of Wireless Sensor Networks has been evidenced in many applications like military areas, health monitoring and observation of earthquake etc. However, WSN has also some limitations including limited energy supply that leads to shorter life time of the network. Although numerous techniques have been proposed to improve the life time of sensor nodes, yet the large energy requirements for communication activities is still a serious issue. In this work, Segregated Receive and Relay (SRR) based routing scheme has been proposed to increase the lifetime of WSN. To achieve the purpose, relay nodes have been introduced in interior regions of the network area. The results confirm that proposed scheme significantly reduce the energy consumed by interior region nodes, which proves the usefulness of the proposed scheme in prolonging WSN lifetime. ? 2014 IEEE.