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Study Of Genetic Association Of Pax Gene To Waardenburg Syndrome In Pakistani Patients

by Huma Tabassam | Dr. Ali Raza Awan | Miss. Sehtish Faryal | Mrs. Shagufta.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2011Dissertation note: Waardenburg syndrome is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease. Patients with WS have been shown to have mutations in the PAX gene as well as in other genes. In the present study, the locus specific polymorphisms of human PAX gene isolated from healthy and diseased Pakistani individuals was investigated for genetic association of the polymorphism with the Waardenburg syndrome. Mutation in PAX gene was identified from Pakistani patients with Waardenburg syndrome. For the purpose, blood samples of patients suffering from Waardenburg syndrome were collected from different hospitals. DNA was isolated from WBCs suspended in the preserved samples using standard organic DNA extraction protocol. Primers were designed using Primer3 programme. PCR conditions were optimized and mutation discovery was performed on all DNA samples. Analysis of the sequences and mutations was done with the help of appropriate bioinformatics softwares. Analysis of the variable sites revealed T?C transitions, (mutations) at position number 244 was found in exon 2 of the gene. All 17 patients exhibit this mutation at the same position. Results of normal patients where there was no change found and PAX3 gene is not mentioned as it was not significant to mention. PAX gene has not been studied in the Pakistani patients earlier. The mutational investigation and association study will help to understand the genetic basis of the Waardenburg syndrome not only in Pakistan but it will also contribute to the global efforts to understand the human genetics. Availability: Items available for loan: UVAS Library [Call number: 1359,T] (1).

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Molecular Characterization Of Cacna 1H Gene To Fine Out Association Of Polymorhism In Childhood Absence

by Qurrat-ul-Ain | Dr. Muhammad Wasim | Dr. Muhammad Asif | Mrs. Shagufta.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2012Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1472,T] (1).

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Lysine Production On Pilot Scale By Brevibacterium Flavum And Its Characterization, Purification And Crystallization

by Muhammad Faisal | Dr. Abu Saeed Hashmi | DR. Aftab | Mrs. Shagufta Saeed.

Material type: book Book; Format: print Publisher: 2013Dissertation note: Food and feed protein demands have increased due to raise in population. Therefore continuous efforts have been progressed to enhance the production rate by conventional and non conventional methods. Fermentation technology have participated decisive role for a long time period and presently the amino acids formed by fermentation set apart principal biotechnology products significantly. By consuming low-cost carbon supply mutants originate potential to the inexpensive built-up for amino acids. L-lysine demand is steadily rising in the sector of feed stuffs, soft drinks, food ingredients, pharmacy and biological fluids, etc. In order to meet the market demand and accomplish growing and assorted L-lysine requirements, microbial metabolic engineering and recombinant DNA technology is the only hope and possibility for advancing the strains. Purification and isolation of material produced is a very significant element extremely influences fermentation practice usefulness and manufacturing expenses. It demands enhancement in the recycling procedure of amino acids, mainly L-lysine. The present study was designed to produce lysine on pilot scale by using Brevibacterium flavum. A variety of agricultural byproducts like wheat bran, sugar cane molasses and rice polishing were utilized as substrate for lysine production through fermentation by using Brevibacterium flavum. Primarily optimum conditions were determined through fermentation for lysine production on micro scale. Subsequently these conditions were employed for biosynthesis of lysine on pilot scale. Qualitative assay of lysine was performed by TLC and quantitative assay by spectrophotometrically. It was found that amongst all the substrates 4% molasses was produced maximum lysine at 300C. Different inorganic and organic material like 0.4% CaCO3, O.4% MgSO4.7H2O, 0.1% NaCl, 0.8% KH2PO4, 2.5 % (NH4)2SO4, 0.5 % urea, 0.04 mg % biotin and 0.6 % corn steep liquor were found to be optimal for maximum lysine yield. After pilot scale production of lysine in fermentor, different techniques of downstream were applied. The biomass liquor thus produced was purified and crystallized through different techniques to transform in to L-lysine crystals. The information thus attained was subjected to statistical analysis by using one way ANOVA on optimization of different parameters for L-lysine production and comparison of mean values was done by Least Significant Difference (LSD). Based on the above observations it was concluded that molasses is the most suitable substrate among other agriculture wastes for maximum lysine production with Brevibacterium flavum. Availability: Items available for loan: UVAS Library [Call number: 1631,T] (1).

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Biochemical Effects Of Ginger And Turmeric Extracts In Diabetic And Dyslipidemic Model Of Rats

by Naveed Hussain | Dr. Abu Saeed Hashmi | Dr. M. Wasin | Mrs. Shagufta Saeed.

Material type: book Book; Format: print Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2101,T] (1).

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