Cover Image

Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated cholesterol levels. Studies have shown that polymorphism in the LDLR gene is one of the contributor of FH. Two polymorphisms were detected in exon IO in this study done in twelve subjects. 292090&...

Full description

Saved in:
Bibliographic Details
Main Author: Kerine, Cannilia
Format: Thesis
Language:English
Published: 2013
Subjects:
Pharmacopoeias
Online Access:https://ir.uitm.edu.my/id/eprint/109201/1/109201.PDF
https://ir.uitm.edu.my/id/eprint/109201/
Tags: Add Tag
No Tags, Be the first to tag this record!
id my.uitm.ir.109201
record_format eprints
spelling my.uitm.ir.1092012025-02-21T23:45:33Z https://ir.uitm.edu.my/id/eprint/109201/ Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine Kerine, Cannilia Pharmacopoeias Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated cholesterol levels. Studies have shown that polymorphism in the LDLR gene is one of the contributor of FH. Two polymorphisms were detected in exon IO in this study done in twelve subjects. 292090> A SNP was detected in 50% of the samples. A probable novel SNP 29326A>G was detected in only 8% of the samples. SNPs 29209G>A and 29326A>G were both synonymous with no change in amino acid. For future plan, allele specific polymerase chain reaction (AS-PCR) can be done to validate the SNPs. Further studies need to be done to increase the understanding of genetic factors that contributes to hypercholesterolemia among the Malaysians. 2013 Thesis NonPeerReviewed text en https://ir.uitm.edu.my/id/eprint/109201/1/109201.PDF Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine. (2013) Degree thesis, thesis, Universiti Teknologi MARA (Kampus Puncak Alam).
institution Universiti Teknologi Mara
building Tun Abdul Razak Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Teknologi Mara
content_source UiTM Institutional Repository
url_provider http://ir.uitm.edu.my/
language English
topic Pharmacopoeias
spellingShingle Pharmacopoeias
Kerine, Cannilia
Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
description Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated cholesterol levels. Studies have shown that polymorphism in the LDLR gene is one of the contributor of FH. Two polymorphisms were detected in exon IO in this study done in twelve subjects. 292090> A SNP was detected in 50% of the samples. A probable novel SNP 29326A>G was detected in only 8% of the samples. SNPs 29209G>A and 29326A>G were both synonymous with no change in amino acid. For future plan, allele specific polymerase chain reaction (AS-PCR) can be done to validate the SNPs. Further studies need to be done to increase the understanding of genetic factors that contributes to hypercholesterolemia among the Malaysians.
format Thesis
author Kerine, Cannilia
author_facet Kerine, Cannilia
author_sort Kerine, Cannilia
title Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
title_short Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
title_full Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
title_fullStr Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
title_full_unstemmed Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine
title_sort potential role of ldlr in familial hypercholesterolemia / cannilia kerine
publishDate 2013
url https://ir.uitm.edu.my/id/eprint/109201/1/109201.PDF
https://ir.uitm.edu.my/id/eprint/109201/
_version_ 1825165108496564224
score 13.239859

Similar Items