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Identification Of Polymorphism Of Cyp2D6 Gene In Pakistani Patients Of Epilepsy

by Sana Kulsoom | Prof. Dr. Masroor Ellahi Babar | Dr. Ali Raza Awan | Mr. Zahid.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2011Dissertation note: Epilepsy is a neurological disorder which causes seizures by sudden burst of hyperactivity in the brain. It is a global health problem and 50 million people have epilepsy all over the world. The majority of epilepsy patients can pass a good life if they receive proper treatment. Various types of epilepsy are present in Pakistan but Generalized tonic-clonic seizure (GTCS) is the most frequent type of epilepsy present in Pakistani patients. GTCS is a type of seizers involving the entire brain. It is also called a grand mal seizure. CYP2D6 is a gene associated with GTCS. CYP2D6 is a 4.6 kb gene which encodes the protein cytochrome P450, a metabolizing enzyme. CYP2D6 is a highly polymorphic gene with 09 exons. Patient data and blood samples of different epilepsy patient were collected. DNA was isolated by Organic method. PCR amplification was performed for CYP2D6 gene (exon 6-9) and sequencing was performed on ABI 3130 XL Genetic analyzer and the results were analyzed. In this way the mutations, 2850 C>T in exon 6 of CYP2D6 gene have been caricaturized in Pakistani patients of GTCS encoding Cyctine in place of Argine at 296 in CYP2D6 enzyme. This change may be associated with GTCS in Pakistani Patients. Above study will help medical scientists in Molecular diagnosis, Genetic counseling and Gene therapy. Availability: Items available for loan: UVAS Library [Call number: 1519,T] (1).

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Molecular Charaterization Of Ampk Gene Of Pakistan Buffalo

by Waqas Ahmed Khan | Prof. Dr. Masroor Ellahi Babar | Dr. Aftab | Dr. Ali Raza Awan.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2011Dissertation note: Pakistan is an agriculture country and its economy is mainly dependent on agriculture, agriculture products. Livestock has been playing an important role in the economy of the country. Livestock sector contributed approximately 51.8 percent of the agriculture value added and 11.3 percent to national GDP. Buffalo which is known as black gold of Pakistan is famous for its largest milk production in the world. A better understanding of the genetic control of energy metabolism in farm animals can have far-reaching implications for molecular breeding programs. It can allow the implementation of knowledge-based breeding to increase feed efficiency and to improve meat quality. In addition, because of the high degree of evolutionary conservation of these genes, the information gained about the genetic control of animal nutrition can be extrapolated back to questions about human nutritional genomics and disease. This study was performed to discover the single nucleotide polymorphism at AMP-activated protein kinase (AMPK) gene in Nilli Ravi and Kundi Buffalo and their possible association with milk production. As AMPK is a sensor of energy metabolism so genetic variations in AMPK gene may also have effect the feed utilizing efficiency of animals. Buffalo is popular for utilizing low quality roughages in a better way. Buffaloes are popular in the world for high fat content and low cholesterol content as compare to cattle. A total of 128 single nucleotide polymorphisms were discovered at AMPK gene in Nilli-Ravi and Kundi Buffalo. Out of which 10 are in exonic region and 118 are in Intronic region. Most of the SNPs are Intronic it also shows that AMPK is highly conserved as it has been shown by many studies. The Intronic SNPs may have role in regulation of AMPK gene. Forty-six SNPs were discovered in Intronic region of A1 subunit of AMPK gene. Out of these 46 SNPs. Forty-four SNPs are same in both Nilli-Ravi&Kundi buffalo. Two SNPs found at position 11908 and 12217 was present only in Kundi buffalo. These two SNPs can be used for breed characterization of Nilli-Ravi&Kundi buffalo. The numbers of SNPs discovered in exonic region are 6. These all SNPs are non-synonymous mutations and changes amino acids at position 23333 from Histidine>Tyrosine, at 23387 from Glutamic acid>Lysine, at 23402 from Valine>Isoleucine, at 23426 from Ser>Pro, at 23489 from Stop codon>Arg and at 23612 from Ala>Thr. Forty SNPs were discovered in Intronic region of A2 subunit of AMPK gene. Out of these 43 SNPs 28 are same in both Nilli-Ravi & Kundi buffalo. SNPs at positions 71371, 71382, 71383, 71396, 71558, 42736, 42766, 42881, 41661, 41900 and 42021 are only present in Kundi buffalo while SNPs at position 70900, 71613, 42935 and 42944 are present only in Nilli-Ravi buffalo. These SNPs can also be used for breed characterization of Nilli-Ravi and Kundi buffalo. The B1 subunit of AMPK gene has 21 SNPs in Intronic region, which is common, both in Nilli-Ravi and Kundi buffalo. These polymorphisms may have role in regulation of AMPK gene. The SNPs found in exonic region are 3 which are all non-synonymous mutations and changes amino acids at position 4362 from Histidine>Tyrosine and at positions 8193, 8195 from Glycine>Serine. All exonic SNPs are non-synonymous mutations, which show that it will change the function of protein and might be associated with milk production and feeding efficiency in Nilli-Ravi & Kundi buffalo. This study is an example of candidate gene approach to find some novel variations at population level. It is the first study conducted for Molecular Characterization of AMPK gene in Buffalo. The only way to associate these polymorphisms to the trait under consideration (energy metabolism) by back tracing the sampling groups. This study is first in finding some molecular markers for energy metabolism in Nilli-Ravi and Kundi buffalo that can be used for future selection and breeding programs. More the population will be diversified for the trait and showing trends of heterozygosity, better will be the chances of selection of animals with suitable genetic makeup. Availability: Items available for loan: UVAS Library [Call number: 1796,T] (1).

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