Open AccessCorrelation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction
Author(s) -
Dhaifallah A Alenizi,
Nadeem Kizilbash,
Owais Bin Qadeer Gill,
Abdelrahman Mohamed Ahmed Abukanna,
Sadia Malik,
Abdulla A.-B. Badawy
Publication year - 2013
Publication title -
genetics and molecular research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.356
H-Index - 48
ISSN - 1676-5680
DOI - 10.4238/2013.november.26.6
Subject(s) - exon , mutation , ldl receptor , in silico , genetics , gene , familial hypercholesterolemia , dna sequencing , gene mutation , biology , medicine , microbiology and biotechnology , lipoprotein , cholesterol
We investigated systolic dysfunction by the use of biochemical laboratory tests and perfusion single-photon emission computed tomography imaging in 32 Pakistani subjects exhibiting symptoms of this disorder. To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were screened by PCR-SSCP and DNA sequencing to detect changes in the low density lipoprotein receptor gene (LDLR). A novel mutation (1171G>A) in exon 8 and two polymorphisms (1167G>A and 1413 A>G) in exons 8 and 10 of the LDLR gene were found. In silico tools such as SIFT, PolyPhen-2, KD4v, and Project HOPE were used to predict the effect of this mutation on protein structure and function.