title: Molecular description of familial defective APOB-100 in Malaysia.
abstract: Familial ligand-defective apolipoprotein B-100 is characterized by elevated plasma low-density lipoprotein levels and premature heart disease. This study aims to determine apolipoprotein B gene mutations among Malaysians with clinical diagnoses of familial hypercholesterolemia and to compare the phenotype of patients with apolipoprotein B gene mutations to those with a low-density lipoprotein receptor gene mutation. A group of 164 patients with a clinical diagnosis of familial hypercholesterolemia was analyzed. Amplicons in exon 26 and exon 29 of the apolipoprotein B gene were screened for genetic variants using denaturing gradient high-performance liquid chromatography; 10 variants were identified. Five novel mutations were detected (p.Gln2485Arg, p.Thr3526Ala, p.Glu3666Lys, p.Tyr4343CysfsX221, and p.Arg4297His). Those with familial defective apolipoprotein had a less severe phenotype than those with familial hypercholesterolemia. An apolipoprotein gene defect is present among Malaysian familial hypercholesterolemics. Those with both mutations show a more severe phenotype than those with one gene defect.
authors.affiliation: Medical Cluster, Faculty of Medicine, Universiti Teknologi MARA (UiTM), Jalan Hospital, 47000, Sungai Buloh, Selangor, Malaysia, alyaa_1974@yahoo.com.
authors.forename: Alyaa R
authors.initials: AR
authors.lastname: Al-Khateeb
authors.forename: Mohd Sapawi
authors.initials: MS
authors.lastname: Mohd
authors.forename: Zukarnai
authors.initials: Z
authors.lastname: Yusof
authors.forename: Bin Alwi
authors.initials: BA
authors.lastname: Zilfalil
mesh_terms: D000328:Adult; D053299:Apolipoprotein B-100 / Q000235:genetics*; D016022:Case-Control Studies; D002853:Chromatography, Liquid; D005260:Female; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011973:Receptors, LDL / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D053299:Apolipoprotein B-100; C573412:LDLR protein, human; D011973:Receptors, LDL