Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayendra Kulkarni,Rajat Hegde,Smita Hegde,Suyamindra S. Kulkarni,Suresh Hanagvadi,Kusal K. Das,Sanjeev Kolagi,Pramod B. Gai,Rudragouda Bulagouda 대한혈액학회 2021 Blood Research Vol.56 No.4

Background Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB patients using sequencing technology. Methods F9 gene sequences were amplified from peripheral blood-derived DNA and sequenced on an Applied Biosystems (ABI) 3500 Sanger sequencing platform. Functional and structural predictions of mutant FIX were analyzed. Results Among 150 HB patients, 102 (68%), 30 (20%), and 18 (12%) suffered from severe, moderate, and mild HB, respectively. Genetic analysis identified 16 mutations, including 3 novel mutations. Nine mutations (7 missense and 2 stop-gain) were found to be pathogenic. Only 3 mutations (c.127C>T, c.470G>A, and c.1070G>A) were associated with different severities. While 2 mutations were associated with mild HB cases (c.304C>T and c.580A>G), 2 (c.195G>A and c.1385A>G) and 3 mutations (c.223C>T, c.1187G>A, and c.1232G>A) resulted in moderate and severe disease, respectively. Additionally, 1 mutation each was associated with mild-moderate (c.*1110A>G) and mild-severe HB disease (c.197A>T), 4 mutations were associated with moderate-severe HB cases (c.314A>G, c.198A>T, c.676C>T, and c.1094C>A). FIX concentrations were lower in the mutated group (5.5±2.5% vs. 8.0±2.5%). Novel p.E66D and p.S365 mutations were predicted to be pathogenic based on changes in FIX structure and function. Conclusion Novel single nucleotide polymorphisms (SNPs) largely contributed to the pathogenesis of HB. Our study strongly suggests that population-based genetic screening will be particularly helpful to identify risk prediction and carrier detection tools for Indian HB patients.

Bioremediation of imidacloprid using Azospirillium biofertilizer and Rhizobium biofertilizer

Kavita Kulkarni,Aishwarya Chawan,Anand Kulkarni,Sandip Gharat 한국화학공학회 2022 Korean Journal of Chemical Engineering Vol.39 No.10

Imidacloprid is a pesticide used for agricultural purposes. Residue of pesticide in water and soil will affect the water and soil quality. Seepage out of imidacloprid to the ecological system could affect aquatic life as well as human. The toxic pollutants would affect the quality of agriculture run off, in turn contaminating water bodies acting as sink for these runoffs. Hence, there is need for reparation of these pollutants. Azospirillium biofertilizer and Rhizobium biofertilizer were used as adsorbent for the removal of imidacloprid. These biofertilizers have capability to reduce the harmful component as well as be useful for plant growth. Azospirillium bacteria and Rhizobium bacteria are competent for the removal of organic pollutant from wastewater. These biofertilizers maintain biological activity without any adverse effect. The adsorptive removal of imidacloprid by using Azospirillium biofertilizer and Rhizobium biofertilizer was investigated at different conditions using batch experimentation. Optimization of parameters, such as dosage, time, temperature, pH, and agitation speed, was carried out. Equilibrium adsorption was illustrated by Langmuir and Freundlich isotherms. The kinetic data was best described by intraparticle diffusion and pseudo-second-order model. Reusability study showed good removal efficiency of imidacloprid after fourth use also. The investigations show that these materials have potential to be an excellent alternative for removal of pesticides while supporting plant growth.

Numerical and Experimental Analysis of Transpiration Cooling in Carbon Dioxide Atmosphere at Hypersonic Mach Numbers

V. N. Kulkarni,P. S. Kulkarni,K. P. J. Reddy 한국전산유체공학회 2003 한국전산유체공학회 학술대회논문집 Vol.2003 No.10

Temporal Variation of Dominant Modes of Oscillations in the Wind Field in the Surface Boundary Layer over a Costal Indian Station

Makarand A. Kulkarni,J. R. Kulkarni,G. V. Rama,P. N. Sen 한국기상학회 2007 한국기상학회 학술대회 논문집 Vol.2007 No.-

Comparative genome analysis to identify SNPs associated with high oleic acid and elevated protein content in soybean

Kulkarni, Krishnanand P.,Patil, Gunvant,Valliyodan, Babu,Vuong, Tri D.,Shannon, J. Grover,Nguyen, Henry T.,Lee, Jeong-Dong,Belzile, F. National Research Council of Canada, Conseil natio 2018 Genome Vol. No.

<P> The objective of this study was to determine the genetic relationship between the oleic acid and protein content. The genotypes having high oleic acid and elevated protein (HOEP) content were crossed with five elite lines having normal oleic acid and average protein (NOAP) content. The selected accessions were grown at six environments in three different locations and phenotyped for protein, oil, and fatty acid components. The mean protein content of parents, HOEP, and NOAP lines was 34.6%, 38%, and 34.9%, respectively. The oleic acid concentration of parents, HOEP, and NOAP lines was 21.7%, 80.5%, and 20.8%, respectively. The HOEP plants carried both FAD2-1A (S117N) and FAD2-1B (P137R) mutant alleles contributing to the high oleic acid phenotype. Comparative genome analysis using whole-genome resequencing data identified six genes having single nucleotide polymorphism (SNP) significantly associated with the traits analyzed. A single SNP in the putative gene Glyma.10G275800 was associated with the elevated protein content, and palmitic, oleic, and linoleic acids. The genes from the marker intervals of previously identified QTL did not carry SNPs associated with protein content and fatty acid composition in the lines used in this study, indicating that all the genes except Glyma.10G278000 may be the new genes associated with the respective traits. </P>

Photoconducting properties of a unit nanostructure of ZnO assembled between microelectrodes.

Kulkarni, Atul,Wahab, Rizwan,Ansari, S G,Kim, Tae-Sung,Al-Deyab, Salem S,Ansari, Z A American Scientific Publishers 2012 Journal of nanoscience and nanotechnology Vol.12 No.3

<P>The photoconducting properties of a unit microflower of zinc oxide are investigated as a function of wavelength from UV to IR region at constant illumination intensity. Synthesized flowers were trapped in 2 microm gap, between pre-prepared gold microelectrodes, using AC dielectrophoresis. Photocurrent drastically increases upon illumination in the UV region, whereas it gradually reduces when irradiated in visible and IR region. Higher photoconductivity in UV region is correlated to band to band transition upon illumination. In visible region, deep level transitions are expected which intern exhibits comparatively low photocurrent. Photoconduction in IR region is only due to the adsorbed surface oxygen species. This investigation suggests the potential application of ZnO nanostructures for various optoelectronic device applications.</P>

Design of a High-performance High-pass Generalized Integrator Based Single-phase PLL

Kulkarni, Abhijit,John, Vinod The Korean Institute of Power Electronics 2017 JOURNAL OF POWER ELECTRONICS Vol.17 No.5

Grid-interactive power converters are normally synchronized with the grid using phase-locked loops (PLLs). The performance of the PLLs is affected by the non-ideal conditions in the sensed grid voltage such as harmonics, frequency deviations and the dc offsets in single-phase systems. In this paper, a single-phase PLL is presented to mitigate the effects of these non-idealities. This PLL is based on the popular second order generalized integrator (SOGI) structure. The SOGI structure is modified to eliminate the effects of input dc offsets. The resulting SOGI structure has a high-pass filtering property. Hence, this PLL is termed as a high-pass generalized integrator based PLL (HGI-PLL). It has fixed parameters which reduces the implementation complexity and aids in the implementation in low-end digital controllers. The HGI-PLL is shown to have the lowest resource utilization among the SOGI based PLLs with dc cancelling capability. Systematic design methods are evolved leading to a design that limits the unit vector THD to within 1% for given non-ideal input conditions in terms of frequency deviation and harmonic distortion. The proposed designs achieve the fastest transient response. The performance of this PLL has been verified experimentally. The results agree with the theoretical prediction.

Individual and Combined Effects of Genes Producing Opposite Effects on Plant Height in Periwinkle (Catharanthus roseus)

Kulkarni, Raghavendra Narayanrao,Baskaran, Kuppusamy 한국작물학회 2013 Journal of crop science and biotechnology Vol.16 No.2

An extremely tall mutant (EMS 18-12), a bushy mutant (EMS 24-5), their parental variety Nirmal, and their double mutant recombinant were used to study individual and combined effects of genes producing opposite effects on plant height in periwinkle (Catharanthus roseus). Plant height of the extremely tall mutant (EMS 18-12) was controlled by epistatic inhibitory interaction between two independently inherited dominant genes, Et and H; Et producing extremely tall phenotype and H inhibiting Et. Both genes were inherited independently of plant height-reducing recessive gene by in the bushy mutant (EMS 24-5). Individually, genes Et and by increased and reduced plant height at harvest (when plant were 9 months old) by 90 and 25%, respectively, over parental variety. The double mutant recombinant (Etby) was taller than the bushy mutant (EMS 24-5) and variety, Nirmal but shorter than the extremely tall mutant (EMS 18-12) at different stages. At 1 to 7 weeks after germination, its height was 7.4 to 30.0% greater than the mid-parental value but 5.8 to 30.5% shorter than that expected on the basis of individual effects of genes Et or by. At the age of 4 to 9 months, its height was 5.4 to 40.1% greater than the mid-parental value and 5.6 to 44.1% (except at 5 months) greater than that expected on the basis of individual effects of genes Et or by, suggesting age-dependent epistatic interaction between the genes. No interaction effects were observed for leaf and root yields or contents of alkaloids in leaves and roots.

The plastic optical fiber cantilever beam as a force sensor

Kulkarni, Atul,Na, Jeonggil,Kim, Youngjin,Kim, Taesung Wiley Subscription Services, Inc., A Wiley Company 2009 MICROWAVE AND OPTICAL TECHNOLOGY LETTERS Vol.51 No.4

<P>This study reports use of inexpensive intensity-based plastic optical fiber (POF) in the form of cantilever beam to monitor the force. The cantilever consists of POF surface bonded on the surface of metal beams viz. spring steel (SS) and mild steel (MS) and subjected to force. The performance of the force sensor is evaluated during macro-bending caused because of the deflection of the beam by applied force. Experimentally obtained detector output of POF, which could be measured with negligible hysteresis is compared with finite element analysis in the range between 0.0098 and 19.613 N. The reproducibility of the sensor is observed in the limit of ±1%. The proposed sensor can replace stain gauge load cell to certain extent in some applications. © 2009 Wiley Periodicals, Inc. Microwave Opt Technol Lett 51: 1020–1023, 2009; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.24217</P>

Note: Real time optical sensing of alpha-radiation emitting radioactive aerosols based on solid state nuclear track detector.

Kulkarni, A,Ha, S,Joshirao, P,Manchanda, V,Bak, M S,Kim, T American Institute of Physics 2015 Review of scientific instruments Vol.86 No.6

<P>A sensitive radioactive aerosols sensor has been designed and developed. Its design guidance is based on the need for a low operational cost and reliable measurements to provide daily aerosol monitoring. The exposure of diethylene-glycol bis (allylcarbonate) to radiation causes modification of its physico-chemical properties like surface roughness and reflectance. In the present study, optical sensor based on the reflectance measurement has been developed with an aim to monitor real time presence of alpha radioactive aerosols emitted from thorium nitrate hydrate. The results shows that the fabricated sensor can detect 0.0157 kBq to 0.1572 kBq of radio activity by radioactive aerosols generated from (Th(NO3)4 ??? 5H2O) at 0.1 ml/min flow rate. The proposed instrument will be helpful to monitor radioactive aerosols in/around a nuclear facility, building construction sites, mines, and granite polishing factories.</P>