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Assessment Ofgenetic Polymorphism In The Tph Gene As Susceptible Factor For Aggressive Behavior In Criminals From Prisonsof Punjab, Pakistan

by Zonash Riaz (2010-VA-479) | Dr. Saadat Ali | Dr. Muhammad Yasir Zahoor | Dr. Wasim Shehzad.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Aggression is perceived as hostile, injurious, or destructive behavior often caused by frustration, can be collective or individual. Genetic studies have associated several genes with aggression in humans. One of the candidate genes that turned out to be associated with aggression, anger, and impulsivity is the tryptophan hydroxylase (TPH) gene. We investigated the polymorphism in the TPH gene in the unrelated male individuals in the Punjab ethnic backgrounds who were administered the Punjabi translation of Buss and Perry aggression questionnaire. The questionnaire measured four aspects of aggression: physical aggression, verbal aggression, anger and hostility (Buss and Perry, 1992).Scores ± SD of 83.544± 26.63 was obtained for Buss and Perry aggression questionnaire. TPH is a rate-limiting biosynthetic enzyme in the serotonin pathway and regulates levels of 5-hydroxytryptophan (5-HT) by converting tryptophan into 5-hydroxytryptophan, which is the direct precursor of 5-HT. It is conceivable that variations in the TPH gene could contribute to low activity of the 5-HT system. Single nucleotide polymorphisms (SNPs) that show associations to aggression and anger-related traits have been detected in intron 7 of TPH gene.DNA of individuals categorized into controls and criminal groups was extracted by organic method of DNA extraction.The targeted region of the TPH gene was amplified by the primers designed against intron seven. The amplified Pcr product was precipitated and it was sent for sequencing. The resultant sequenced data was then compared on the basis of Buss and Perry aggression scores. All unrelated male individuals from the Punjab ethnic groups were assessed on the scales showing scores for physical aggression, verbal aggression, anger and hostility. The minimum score for the respondents were 65 and highest score for the respondents were 135 among the criminal group while control have minimum scores of 50 and maximum scores of 113.Mean scores and standard deviations were calculated for criminals and control groups. Control group havephysical aggressionmean scores ± SD19.318 ± 6.21, verbal aggressionmean scores ± SD17.590± 4.41,angermean scores ± SD23 ± 6.868and hostility mean scores ± SD23.636± 9.12and total mean scores ± SD83.544± 26.63while criminals have physical aggressionmean scores ± SD28.2±8.134, verbal aggressionmean scores ± SD20.4±4.427, anger mean scores ± SD27.3±6.97and hostilitymean scores ± SD28.1±7.72and totalmean scores ± SD04.2±20.47.Mean aggression values for the criminals was 104 and for controls was 83, higher in criminals as expected. Criminals groups exhibited greater level of aggression as compared to that of control groups on the basis of four scales of aggression i.e. physical aggression, verbal aggression, anger and hostility. Observed genotypic frequencies among the control groups were 0.7 for CC, 0.3 for the AC and 0 for AA whereas genotypic frequencies amongst criminal group were 0.3 for CC, 0.6 for AC and 0.1 for AA. Controls carried higher genotypic frequencies for normal CC genotype than criminals whereas the genotypic frequencies for AA and AC genotypes were higher in Criminal group.Observed allelic frequencies amongst the control group was 0.8 for C and 0.15 for A whereas observed allelic frequencies amongst the criminal group was 0.4 for A and 0.6 for C. Controls carried higher allelic frequencies for the normal C allele while criminals carried higher allelic frequencies for A allele.In our study proportion of the less common (A or U) alleles was 40%, and the proportion of the more common (C or L) alleles was 60% in criminal group as compared to 15% of A allele and 85% of C allele in the control group. Statistical analysis has associated significantly Criminals and controls group at P value less than 0.05. Advances in the understanding of the genes modulating aggression can contribute meaningfully to a rational assessment and treatment of individuals with pathological aggression and a predisposition to violence. Results can be utilized for the screening of Aggression in the individuals for forensic applications. In future studies, other polymorphism in TPH and other aggression related genes may also be analysed in Pakistani population. Availability: Items available for loan: UVAS Library [Call number: 2595-T] (1).

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2.
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Role Of Maoa Polymorphism In Criminal Violence Among Convicted Offenders

by Shahpal Shujat (2010-VA-494) | Dr. Maryam Javed | Dr. Wasim Shehzad | Dr. Saadat Ali.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Criminal violence is the violent act of crime that can be of different category such as Homicidal, Sexual and Physical violence. Criminal violent behaviour is under the control of brain having serotonergic and dopaminergic system that is under the influence of genes .MAOA gene lies under the control of serotonergic system. There are 2 polymorphic forms of MAOA gene on the basis of its activity i-e MAOA-L (Low activity allele) and MAOA-H (High activity allele). MAOA-L in males but in females MAOA-H is linked with violent behaviour in combination with environmental factors. Blood/Saliva /Buccal swabs samples (n = 20) were collected from District Jail Sheikhupura, Pakistan Organic/Inorganic method of DNA extraction was used. Primers for PCR amplification was designed using Primer3 software. PCR products were sequenced by using Sanger method from CAMB. Violent behaviour was determined by using Buss and Perry aggression Questionare Physical aggression scoring. Sequencing results were analyzed using CHROMAS software. Sequence alignment tool like CLUSTAL was used for aligning multiple sequences of convicted samples and compared with control (DNA mixture amplification) and standard samples and detected for SNP. Then SNP were detected for the amino acid change by using ExPASy software.SNP statistical analysis was done by calculating POPGENE software and association analysis was performed by using ANOVA. SNP in exon 8 at locus 43591035 of MAOA was identified that was T instead of G while in exon 13 two SNPs were identified at locus 43603089 and 43603112 .Both SNPs for exon 13 was heterozygous and changes T into A .The synymous SNPs were at locus 43591035 and Summary 73 43603089 . But the SNP at locus 43603112 was non-synonymous .The association study showed that there was no association between SNP and violence scores among convicted offenders. Availability: Items available for loan: UVAS Library [Call number: 2486-T] (1).

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3.
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Molecular Characterization Of Oca2 Gene In Correlation With Eye Color For Forensic Application

by Anam Noor (2014-VA-942) | Dr. Muhammad Yasir Zahoor | Dr. Allah Rakha | Dr. Saadat Ali | Dr. Wasim Shehzad.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: DNA phenotyping is the use of genetic information such as DNA to determine a phenotype. It helps forensic investigator to predict the physical appearance of an individual to find unknown perpetrators or to identify missing persons using molecular analyses from biological samples in cases where all other means of inquiry, including conventional DNA profiling are non-informative. In a non-forensic setting, it permits the prediction of the physical appearance of our ancestors, historical persons or any other deceased individual for whom the identification of appearance traits may be interesting, and it sheds light on human evolution. Based on current research there are only a few traits for which it is possible to make an accurate description based on underlying genetic variation. Eye color is a complex polygenic trait and is under the control of many genes. There are infinite number of eye colors with a multitude of patterns and mixtures. Almost 74% human eye color is under the control of OCA2 gene on chromosome 15. This gene correlates with the physical appearance of eye color as EVCs (externally visible characteristics) therefore it can be used as a parameter in forensic application. Samples collected from local areas of Pakistan is divided into two groups brown that include samples from 17 individuals and other than brown including 15 individuals. DNA of 32 samples was extracted and samples were amplified against a selected sequence of OCA2 gene containing SNP rs1800407, which was previously reported to be associated with eye color in European populations. These amplicons were sequenced using Sanger sequencing and chromatograms obtained were analyzed by pairwise and multiple alignment tools. The results show the presence of5 polymorphic sitesin various samples including SNPsrs1800407 and rs1900758. These polymorphic sites were further analyzed by applying t-test which shows no significant association between retrieved polymorphic sites and eye color.The results show no significantly associated marker with eye color to be present within the selected sequence so we need to analyze other markers or SNPs which could be found to be associated with eye color that would be very useful in forensics application. Availability: Items available for loan: UVAS Library [Call number: 2623-T] (1).

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Development Of Novel MtDNA Metabarcodes For Species Differentiation Of Class Reptilia

by Imran Tariq (2014-VA-505) | Dr. Muhammad Imran | Dr. Wasim Shehzad | Dr. Saadat Ali.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: The FoImer COI: mtDNA. universal primers that are considered standard for DNA barcoding of life contain so many =matches against the target sequences of vertebrate men tat they often end in failure to amplify many of vertebrate DNA eurections. This disaepancy fawn foe the seaman and designing of new metabarcode panes that can be used m ideally all inditdrals of vertebrees or at least all individuals represented in a class of Vertebrate such as Cass Reprilia. The current study was embadang on such an endeavor The proposed study was develop new m5DNA membarc ode that may be used as universal Kilns; to amplify almost all species of Class Repalia for different formic and molectdr biodivesity analyses. Blood and tissue samples were collected from Class Repdha (at :east 24 species from every ceder reported to be present in Pakistan) DNA was extracted from the collected specimen through stacdasd organic method. qualified and =meted and then PCR-amplified using novel universal primers selected from aligned =DNA sequences origtadng from all repdlian mitochondria DNA pnomes submitted to diens online sequence databases such as NCB: micleotide database. Tne sensitiviry. of PCR was assessed using a range of DNA come:madam. The amplified products were sequenced on A131 Genetic Analyzed following Sarge's dideacy method of sequencing. The correctness of obtained croDNA sequences were examined visually in Chromes Lite 2.1 software and then alipmmt of these sequences were per: waxed agitinc highly similar DNA sequences in NCBI nu6eonde databases using BLAST in order to identify the coigin of la-noun =DNA sequences sequencing everimeas and phyla...net< studies was confirm the specificity of the universal primer set developed and present a novel metabarcode for species level identification of large number of reptelian species. So, In future this barcode can be used for species identification in various fields of study such as illegal trade and molecular estimation of boidiversity. Availability: Items available for loan: UVAS Library [Call number: 2628-T] (1).

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Homology & Polymorphism Analysis Of Cc2d1a Gene In Human And Canine For Cognitive Function

by Hafiz Qamar Abbas (2014-VA-214) | Dr. Muhammad Yasir Zahoor | Dr. Wasim Shehzad | Dr. Saadat Ali.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Cognitive disability is a group of genetically heterogeneous abnormality that leads to variable degrees of cognition deficits. It has been shown that inherited disorders can be caused by mutations in large number of different genes and there is evidence for the presence of as yet unknown genes in a significant proportion of patients. This disease can affect 1-3% of overall population and higher in consanguineous families. We aimed to identifying the homology and polymorphism of the gene CC2D1A between human and canines. The present research work was carried out in four phases. The first phase was including enrolment of 10 affected non relevant families with disease history and consent was taken on consent forms as approved by IRB, UVAS. Secondly DNA extraction was done by using standard lab protocols. Thirdly amplification of the selected domains of selected gene (CC2D1A) was done through PCR amplification after designing primers of the selected domains. Sequencing of the amplified products has to be done through Sanger method and mutation analysis was conducted for variants We found two new asynonymous mutation one is deletion of c. 1664_1664delA which lead to the change in the normal function of protein (88%) and other is heterozygous mutation c.1921A/T that result in amino acid change from R to W (12%). Whereas homology analysis shows that deletion region is partially conserved as it code different amino acid but some key domains are conserved. This homology shows that deletion in this region can change the protein expression which can relate to unconscious condition like behavioral or mental retardation. This will be helpful in providing genetic counseling services to indigenous population for intellectual disability cases. Availability: Items available for loan: UVAS Library [Call number: 2627-T] (1).

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