Molecular description of familial defective APOB-100 in Malaysia

• Published in: Biochemical Genetics
• Main Author: Al-Khateeb A.R.; Sapawi Mohd M.; Yusof Z.; Zilfalil B.A.
• Format: Article
• Language: English
• Published: 2013
• Online Access: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84884675445&doi=10.1007%2fs10528-013-9609-6&partnerID=40&md5=5c436d0f3001df5238c8f94444b68fce

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. © 2013 Springer Science+Business Media New York.