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| fixed length control field |
02196nam a22002057a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20160920105946.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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160920b2016 xxu||||| |||| 00| 0 eng d |
| 041 ## - LANGUAGE CODE |
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| Language code of text/sound track or separate title |
eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
2538-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME |
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| Personal name |
Ameer Hassan (2014-VA-504) |
| 110 ## - MAIN ENTRY--CORPORATE NAME |
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| Location of meeting |
Dr. Wasim Shehzad |
| 245 ## - TITLE STATEMENT |
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| Title |
Identification Of Genetic Variants In The Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Sequence Homology With Mus Musculus |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
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| Year of publication |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Number of Pages |
74p.; |
| 502 ## - DISSERTATION NOTE |
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| Dissertation 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. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical Term |
Molecular Biology and Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Dr. Muhammad Yasir Zahoor |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Dr. Muhammad Tayyab |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Thesis |
