Ala519Thr mutation in exon 11 of LDL receptor gene in members of a Malaysian family with hypercholesterolaemia

Junit, S.M. and Othman, S. and Yusof, Rohana and Billett, M.A. and Harun, F. (2003) Ala519Thr mutation in exon 11 of LDL receptor gene in members of a Malaysian family with hypercholesterolaemia. Asia Pacific Journal of Molecular Biology and Biotechnology, 11 (2). pp. 77-82. ISSN 0128-7451,

Ala519Thr_mutation_in_exon_11of_LDL_receptor_gene_in_member.pdf - Published Version

Download (910kB)


We report a case of a Familial Hypercholesterolaemic (FH) patient (FH1) and her family members. They are Malaysian of Indian origin with evidence of consanguinity in the parents. We characterised the LDL receptor gene mutation in FH1, her brother (S1) and their mother, P2. The father (P1) died of coronary heart disease (CHD) in his early 40�s. Our investigation reveals that FH1 and her family do not carry the two of the major known Familial Defective ApoB mutations, Arg3500Gln and Arg3531Cys. Sequencing analysis of the LDL receptor gene demonstrated that FH1 is homozygous for a G to A substitution at nucleotide position 1618, which causes the amino acid to change from alanine to threonine at position 519 (A519T). Both the mother and the eldest brother (S1) of FH1 are heterozygous for the A519T mutation. The A519T mutation had been previously reported in Western ethnicity of the United Kingdom, German and Icelandic origin but this is the first to be identified in the Asian region.

Item Type: Article
Uncontrolled Keywords: Familial Hypercholesterolaemia, LDL Receptor, RT-PCR, Gene sequencing
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms Haslinda Lahuddin
Date Deposited: 11 Jul 2013 02:05
Last Modified: 08 Feb 2019 04:19

Actions (login required)

View Item View Item