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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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Genetic Analysis Of Slc24a5 Polymorphism In Pakistani Population, In Association With Human Skin Pigmentation As An Externally Visible Characteristic Parameter

by Asma Hameed (2008-VA-332) | Dr. Saadat Ali | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Imran.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Human skin pigmentation is a phenotypic trait that varies within a population or among different populations. In addition to the genetic factors, some of the diseases (may be genetic or epigenetic), exposure to UV or usage of cosmetics may also be involved in the pigmentation outlook. It is possible to predict human identity on the basis of DNA polymorphisms in the genes coding human phenotypic characteristics. In case of human skin pigmentation various genes are responsible to code variability among which SLC24A5 is an important contributor. This area of research is important in the field of forensic science in cases where reference samples are not available for comparison with the DNA profiles obtained from the crime scene evidence. SNPs in the coding region of exon3 (84bp) of SLC24A5 related to skin pigmentation (as reported in literature) are associated to a predictable variation in skin color in Pakistani Population. Blood samples (62) were collected from the participants having three types of skin coloration fair= 20, medium=22 and dark=20 from general population belonging to Punjab. Organic method (Phenol chloroform extraction method) of DNA extraction was used. After extraction DNA was quantified on nanodrop spectrophotometer. Primers for the exonic region 3 of SLC24A5 gene were designed using primer 3 software. PCR amplification of the selected region was done through touch down PCR. DNA after obtaining PCR products was purified and the samples were sequenced bi directionally on ABI 3130XL Genetic analyzer. The results of sequencing were analyzed using CHROMAS Lite 2.1 software. Sequence was converted into Fasta Format required for alignment study. Alignment tools like Blast were required for SNPs identification and comparison of all the sample sequences with the reference sequence. Mean color scores and mean ages of all the skin color groups were calculated separately in both male and female participants. Two types of genotypes were observed i.e, AA and AG. 24 out of the total sample size showed heterozygous peaks and confirmed the polymorphism also in Pakistani population at position 299 of the sequence. Difference between allelic and genotype frequency of studied gene were evaluated and by t test and association analysis to check out the significance of the studied data with the skin coloration was done and it was concluded that AA genotype is significantly associated with fair skin color in male and female population. Furthermore, AG genotype was significantly associated with dark skin coloration in female population. This type of study reveals that after the genetic analysis of the DNA obtained from the crime scene, prediction of skin color/hue of crime related individuals of fair skin color as well as dark skin color belonging to Pakistani Population can be made in those cases where reference samples are not available. So this can be used as a genotypic marker for screening out and forensic identification of individuals in various crime cases where reference samples are not available for comparison purposes and matching suspects. Availability: Items available for loan: UVAS Library [Call number: 2608-T] (1).

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