1. How to submit my research paper? What’s the process of publication of my paper?
The journal receives submitted manuscripts via email only. Please submit your research paper in .doc or.pdf format to the submission email: ijpmbs@ejournal.net.
You’ll be given a paper number if your submission is successful. Your paper then will undergo peer review process, which may take approximately one and a half months under normal circumstances, three tops.
After blind peer review, you will receive the notification letter with the review result of your paper...
2. Can I submit an abstract?
The journal publishes full research papers.[Read More]

Genetics of LDLR Gene in Pakistani Hypercholesterolemia Families

Akhtar Ali1, Ros Whittall2,Masroor Ellahi Babar1, Tanveer Hussain1, and Steve E. Humphries2
1.Virtual University of Pakistan, Lahore, Pakistan
2.Center for Cardiovascular Genetics, University College London, United Kingdom

Abstract—Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the three known genes. Low density lipoprotein receptor (LDLR) is considered as main contributor. We recruited clinically diagnosed 21 hypercholesterolemia families from Punjab-Pakistan. High resolution melting analysis used to screen the LDLR gene (all exons and promoter region) and variations were confirmed by restriction fragment length polymorphism and sequencing analysis. The mean of total cholesterol and LDL-cholesterol in the FH patients was 7.5±1.4mmol/l and 5.2±1.5mmol/l respectively. Seven patients showed synonymous variations in the sequence at position c.81T>C, c.993C>T, c.1413G>A, c.1617C>T, c.1725C>.T, c.1959T>C and c.2232A>G while one carried the non-synonymous change c.1171G>A resulting in the non-pathogenic p.(A391T) amino acid change. One common non-pathogenic variant c.1060+10C>G was found in the intronic region. In-silico analysis predicted c.1725C>T, c.1959T>C and c.2232A>G to be affecting the LDLR protein, by altering splicing sites as predicted by Human Splicing Finder and Mutation Taster software. Our findings suggest that ~15% (3/21) of FH patients in Pakistan with no detectable mis-sense mutation may carry pathogenic splicing variants in the LDLR gene sequence.

Index Terms—LDL-cholesterol, synonymous, polymorphic, splicing site

Cite:Akhtar Ali, Ros Whittall, Masroor Ellahi Babar, Tanveer Hussain, and Steve E. Humphries, "Genetics of LDLR Gene in Pakistani Hypercholesterolemia Families," International Journal of Pharma Medicine and Biological Sciences, Vol. 8, No. 4, pp. 143-146, October 2019. doi: 10.18178/ijpmbs.8.4.143-146

Copyright © 2012-2024 International Journal of Pharma Medicine and Biological Sciences, All Rights Reserved
E-mail: ijpmbs@ejournal.net