000			02466nam a22002177a 4500
005			20160920112208.0
008			160920b2016 xxu||||| |||| 00| 0 eng d
041			_aeng
082			_a2551-T
100			_aRida Zainab (2014-VA-808) _926139
110			_cDr. Maryam Javed _917643
245			_aMolecular Investigation Of Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Evolutionary Relationship With Pan Troglodytes
260			_c2016.
300			_a98p.;
502			_aFamilial 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			_aMolecular Biology and biotechnology _926140
650			_aIBBT _926141
700			_aDr. Asif Nadeem _95764
700			_aProf. Dr. Tahir Yaqub _98127
942			_cTH
999			_c9282 _d9281