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Identification Of Genetic Variants In The Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Sequence Homology With Mus Musculus

by Ameer Hassan (2014-VA-504) | Dr. Wasim Shehzad | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Tayyab.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Familial hypercholesterolemia (FH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100, or proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, a molecular analysis of LDLR gene was performed in 20 unrelated patients from Pakistan. All patients were clinically diagnosed with definite or possible hypercholesterolemia according to a uniform protocol and internationally accepted WHO criteria. Preferable study was made to highlight the Genetic variation in Exon 4 of LDLR gene associated with defective catabolism of cholesterol effecting lipid metabolism which results in Familial Hypercholesterolemia. The extraction of genomic DNA was done from all selected blood samples. By selecting primers they were synthesized and optimized on extracted DNA samples. PCR product was sequenced and aligned. Mutations in the LDLR gene and its sequenced homology with Mus musculus were analyzed. We didn’t found any polymorphisms in the LDLR gene exon 4. So we concluded that there is no association between SNPs and increased levels of cholesterol in Pakistani population. More research should be carried out in Pakistan by increasing the sample size and considering the other regions of LDLR gene. This study will help the early detection and treatment of such cases and may ultimately reduce the incidence of mortality due to myocardial infarction. Apart from diagnosis, we also suggest it will be a potential therapeutic strategy to manage FH. Availability: Items available for loan: UVAS Library [Call number: 2538-T] (1).

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Study On Polymorphism Of Promoter Region Of Bovine Lactoferrin Gene And Its Relation With Mastitis In Nili Ravi Buffalo

by Muhammad Asim (2012-VA-636) | Dr. Sehrish Firyal | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Tayyab.

Material type: book Book; Literary form: not fiction Publisher: 2017Dissertation note: Dairy animals in Pakistan and worldwide are facing most persistent and economically affecting disease mastitis. Only a healthy buffalo can produce good quality milk of physiologically normal composition. Mammary gland inflammation due to mastitis badly affects the quantity and quality of milk and this causes big loss to dairy industry. Even province Punjab bears economic losses of 240 million per annum due to mastitis. Susceptibility and resistance to mastitis is affected by the variation in immunity genes. Among immunity genes Lactoferrin (LF) have important role in immune defense system and perform antibacterial, antiviral and anti-inflammatory function. LF is found in most of body fluids like, milk, blood, tear, saliva, bile and mucous. Polymorphism in promoter region of Lactoferrin gene is associated with mastitis susceptibility and resistance. For screening of the mastitis susceptibility and resistance of dairy buffaloes, LF is a potential candidate gene. The present study was designed for the identification of polymorphism in LF gene associated with mastitis. Blood samples from 20 Nili Ravi buffalos having clinical and subclinical mastitis were selected. Blood samples of normal Nili Ravi buffalos were also collected. DNA was extracted; specific primers for amplification of LF gene were designed with Primer-3 software by using already reported sequence on NCBI. Amplification of LF gene performed by PCR and sequenced the amplicon. A comparative analysis of sequence result was performed by using NCBI BLAST. BioEdit software was used to perform multiple sequence alignment. Comparison analysis of LF gene promoter region shows multiple mutations in in clinical and subclinical as compare to reported sequence (accession no. EF650854) at NCBI. While normal samples sequence results are similar to reference data. These results show LF is a candidate gene for mastitis resistance. Availability: Items available for loan: UVAS Library [Call number: 2923-T] (1).

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