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Genetic Study Of Myp6, Mpy7, And Myp8, Loci Of Myopia In Punjabi Families

by Maria Arshad | Prof.Dr.Masroor Elahi Babar | Dr. Abu Saeed | Dr. Ali Raza Awan.

Material type: book Book; Format: print Publisher: 2010Dissertation note: Myopia is a refractive abnormality of the eye in which the parallel light rays from an object at optical infinity are focused by the eye in front of the retina rather than on it. It may be syndromic or non-syndromic. An extreme genetic heterogeneity is associated with this disorder. This is the first experimental study on Myopia in Pakistan. So, investigating the loci of myopia here is very important because this disease is spreading day by day with prevalence rate of 36.5%. Microsatellite markers have been proved as an efficient and powerful tool for discovering any diseased locus. So a panel of these markers was used in this study. Blood samples of various myopic families were collected from various areas of Punjab and their DNA was extracted with the standard protocol. The amplification of DNA was done with primers of microsatellite markers belonging to the loci MYP6, MYP7 and MYP8. Genotyping was done for linkage analysis through PAGE. Haplotypes were made manually by observing the alleles of all the individuals on the gel. The results showed potential linkage against MYP7 locus for the family Myo-3 with autosomal dominant mode of inheritance. This family belongs to the caste "Khawaja" and was enrolled from PCSIR Phase II, Lahore, Punjab. All the affected individuals carried the same allele that was not present in the normal subject. Later the LOD Score for this family was calculated and maximum LOD score came out to be 0.0803 at the marker D11S904 that showed very low percentage of linkage. This can be confirmed by extending the family by further sampling. Availability: Items available for loan: UVAS Library [Call number: 1157,T] (1).

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Clinical And Genetic Study Of Myopia In Myopic Families From Lahore.

by Nabeeha Moeen | Prof.Dr.Masroor Elahi Babar | Dr. Ali raza awan | Dr.Aftab ahmad.

Material type: book Book; Format: print Publisher: 2010Dissertation note: Myopia is described as the common cause of impaired vision and visual disability. In this disease the image is not focused sharply on the retina causing a blur vision to be formed and this condition of eye is referred as myopia. It is highly prevalent eye disease with its prevalence estimated to be I trillion throughout the world and approximately four billion in Pakistan. It is multi factorial disease with 19 loci identified up to date. Five myopic families were identified and selected for this study from different areas of Lahore. Linkage analysis of these families was done by MYP3, MYP4 and MYP5 loci (each consisting of a set of 3 microsatellite markers) of myopia that were selected from the panel of 19 loci. A total number of 9 microsatellite markers were used to analyze 24 samples from five families. After DNA extraction and PCR amplification, linkage analysis was carried out by genotyping through PAGE and haplotypes were constructed for the families. Through the haplotype analysis of pedigree it was found that none of the families was found linked on any of the loci. The comparison of linkage analysis past studies with this study yielded no evidence for the presence of linkage in any of the family genotypes on the three loci. Also the LOD score calculation suggested that as all the pedigrees were found to be unlinked, the LOD score values calculated was less than 1 which suggests that markers also do not support the linkage. This may be due to the less availability of normal samples and total number of affected samples. Moreover according to clinical factors, the individuals selected had low cylindrical component which suggest that these individuals are having simple to moderate myopia. Whereas, increase in spherical component with age shifts the lens more towards positive value (hyperopia) was also observed. It is concluded from this study that no linkage was identified in any of the family. Both clinical and genetic factors are involved in development of myopia. Further detail study on the loci of myopia is required especially focusing the families with consanguineous marriages. Because in such families the probability of presence of linkage is more as the chances of transmission of disease allele are more in cousin marriages. From the presence of unlinked pedigrees it can also be proposed that any novel locus is present and through the identification of this novel locus, a novel gene can also be identified. Moreover, there is a probability that through genome wide screening, any other loci on any other families of Lahore may show an inherited pattern. Availability: Items available for loan: UVAS Library [Call number: 1158,T] (1).

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Linkage Analysis Of Myp12 And Myp14 In Families From Lahore

by Maryam Zahra | Prof.Dr.Masroor Elahi Babar | Dr. Ali Raza Awan | Prof. Dr.

Material type: book Book; Format: print Publisher: 2010Dissertation note: Myopia is one of the most common refractive errors of the eye worldwide that can effect clarity of vision, limit occupational choices and contribute to increased risk to vision threatening conditions. Six families of different casts were enrolled from Lahore (Punjab). Total of six autosomal dominant families were screened for linkage to the known nonsyndromic autosomal dominant and QTL myopia locus, MYP12 and MYP14 respectively. 5mL blood sample were collected aseptically in a 5Oml falcon tubes containing EDTA. DNA extraction was done by inorganic method. Three markers for each locus were selected from literature and redesigned by using 'primer 3' software. These markers were optimized for their annealing temperature and specific concentration of PCR ingredients by gradient PCR. After that all of the markers were amplified separately on genomic DNA samples of each family. PCR products of each of the marker were run on 1.2 % agarose gel along with 50 base pair ladder to visualize the bands of amplified products at 110 volts for 30 minutes. Linkage analyses were carried out by genotyping through PAGE unit of Major Science, model no. MV-2ODSYS. PCR products were run on Polyacrylamide Gel Electrophoresis (PAGE) to examine amplified bands of microsatellites. A standard 5Obp DNA ladder was run along with the sample PCR products as a reference. By reading the alleles appeared on gel haplotypes were constructed for each member of these families. The overall results of this study did not show evidence for linkage of myopia in thee families to the selected loci MYP12 and MYP14 on chromosomes 2 and 1 respectively. It might be possible any other identified locus or any new locus involved in this population of Pakistan. The findings represented here do not represent the conclusion of this study but do provide ongoing data for further investigation into the exact gentic causes of mypia in Pakistan. Availability: Items available for loan: UVAS Library [Call number: 1216,T] (1).

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Identification Of Single Nucleotide Polymorphisms In Olri Gene And Its Association With Milk Composition In Cattle Breeds in Pakistan

by Nusrat Majeed | Prof.Dr.Masroor Elahi Babar | Dr. Ali Raza Awan | Prof. Dr. Abu.

Material type: book Book; Format: print Publisher: 2011Dissertation note: Pakistan being agriculture based country has a great potential in livestock sector. it plays an important role in the economy of the country. Milk is a balanced diet because it contains all the essential nutrients like carbohydrates; fats, proteins, vitamins, minerals and enzymes required for health. In these milk nutrients fat is second most important component of milk. Primary component of milk fat is triglycerides (triacylglycerols or TAG) a typical storage form of lipids. OLRI is the major protein that binds, internalizes and degrades oxidized low density lipoprotein. Ol.Rl as a protein important for oLDL metabol ism may contribute to these effects. Oxidized fat inhibits the expression of lipoprotein lipase and fatty acid transporter genes that causes a reduced uptake of fatty acids into mammary glands. As a result the concentration of triacylglycerols in milk is reduced. OLRl as a protein important for oLOL metabolism may contribute to these effects. OLR J identified as a functional and positional candidate gene product for milk fat percentage and milk fat yield. Polymorphism in Ol.Rl gene increases the milk fat percentage. If polymorphism in Ol.Rl gene is found in Pakistani Sahiwal and Ohanni cattle breeds these were help to screen the animals at younger age and also be used to characterize the different cattle breeds as a milk fat production marker. Unrelated animals were selected for this study. Blood samples were collected from different Go\'1. livestock farms/experimental stations. DNA was extracted by organic method. Primers were designed by using Primer3 software. After DNA amplification by polymerase chain reaction. peR product was sequenced. Sequencing results of the full length OLR I gene were analyzed by alignment of sequences with the help of Blast2sequence software. Novel S Ps were identified. Total of twenty one SNPs were identified in the samples of all breeds that were confirmed at population level by sequencing of each sample. Then total twenty one SNPs were found in all breeds. Most of SNPs were found in intronic regions. In Sahiwal only 5 SNPs are exonic and one of them is common in both Sahiwal and Red Sindhi breeds. Out of total five exonic SNPs, only two were found synonymous and rest of the three exonic SNPs were found to be non synonymous. while all other SNPs are intronic in nature. An intronic SNP is also common between Sahiwal and Dhanni breed. In Red Sindhi a SNP was observed at 3'UTR. Results were analyzed by. using the statistical software POPgene32. The mean value of expected heterozygosity that is 0.3595 is greater than the mean of observed heterozygosity that is 0.0300 that shows low variabil ity in breeds. The mean value for Shannon's Information index (1*) is 0.5421. The aim of research is to identify gene that underlie the genetic variation in bovine milk. fat composition. Availability: Items available for loan: UVAS Library [Call number: 1396,T] (1).

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