title: Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction.
abstract: 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.
authors: Department of Medicine, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia.
authors: D
authors: D
authors: Alenizi
authors: N A
authors: NA
authors: Kizilbash
authors: O
authors: O
authors: Gill
authors: A
authors: A
authors: Abukanna
authors: S
authors: S
authors: Malik
authors: A
authors: A
authors: Badawy
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary; D011973:Receptors, LDL / Q000737:chemistry / Q000235:genetics*; D013318:Stroke Volume; D013599:Systole; D015899:Tomography, Emission-Computed, Single-Photon; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000235:genetics*; D055815:Young Adult
chemical_list: C573412:LDLR protein, human; D011973:Receptors, LDL