Molecular Investigation Of Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Evolutionary Relationship With Pan Troglodytes (Record no. 9282)
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| fixed length control field | 02466nam a22002177a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20160920112208.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 160920b2016 xxu||||| |||| 00| 0 eng d |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 2551-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Rida Zainab (2014-VA-808) |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. Maryam Javed |
| 245 ## - TITLE STATEMENT | |
| Title | Molecular Investigation Of Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Evolutionary Relationship With Pan Troglodytes |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2016. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Number of Pages | 98p.; |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Familial Hypercholesterolemia (FH) phenotype is related to improper metabolism of low density lipoproteins due to mutations in Low-density lipoprotein receptor (LDLR) gene with increased risk of ischemic heart disease. Genetic variants in LDLR gene are associated with defective catabolism of cholesterol effecting lipid metabolism which results in familial hypercholesterolemia. It occurs in both forms: Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia. Patients having high cholesterol were identified by observing the values of their serum lipid profile test reports. Their detailed history was taken and blood samples from the identified patients of familial hypercholesterolemia were collected. DNA extraction was done by Organic method. Primers were synthesized and PCR was conducted using optimized recipe and conditions. PCR products were sequenced. Sequenced data was analyzed using Chromas or BioEdit software. BLAST was performed and sequences were aligned individually by comparing it to the reference sequence. This showed difference in any specific position of a mutated sequence against the reference sequence. CLUSTALW aligned all the sequences together in one time. Sequences were compared with reference sequence to detect the presence of any mutation or SNPs. SNPs were identified manually and the peaks were observed in order to determine if the genotype is heterozygous or homozygous. Statistical Analysis was done and any amino acid change due to the observed SNPs was determined by using Expasy Translate Tool. It was found that both the SNPs showed amino acid changes. In the end, homology analysis was done which showed that Homo sapiens had their LDLR gene closest to that of Gorilla gorilla gorilla. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Molecular Biology and biotechnology |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | IBBT |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. Asif Nadeem |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prof. Dr. Tahir Yaqub |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Thesis |
| Damaged status | Collection code | Permanent Location | Current Location | Shelving location | Date acquired | Full call number | Accession Number | Koha item type |
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| Veterinary Science | UVAS Library | UVAS Library | Thesis Section | 2016-09-20 | 2551-T | 2551-T | Thesis |