Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/113426
Title: Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: Two cases of arginine3500 → tryptophan mutation associated with a unique haplotype
Authors: Choong, M.-L. 
Koay, E.S.C.
Khoo, K.-L.
Khaw, M.-C.
Sethi, S.K.
Keywords: Genetic screening
Heritable disorders
Population screening
Issue Date: 1997
Source: Choong, M.-L.,Koay, E.S.C.,Khoo, K.-L.,Khaw, M.-C.,Sethi, S.K. (1997). Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: Two cases of arginine3500 → tryptophan mutation associated with a unique haplotype. Clinical Chemistry 43 (6) : 916-923. ScholarBank@NUS Repository.
Abstract: The Arg-to-Trp substitution at codon 3500 in the apolipoprotein (apo) B- 100 gene is established as a cause of familial defective apo B-100 (FDB), a functional mutation, resulting in reduced LDL receptor binding and manifest hypercholesterolemia. In a search for similar mutations in 163 Malaysians, we screened the putative receptor-binding region (codons 3456-3553) of the apo B-100 gene by PCR amplification and denaturing gradient-gel electrophoresis. Four single-base mutations were detected and confirmed by DNA sequencing. Two females, a Chinese and a Malay, had the same CGG3500 → TGG mutation, resulting in an Arg3500-to-Trp substitution. This is the second published report of such an independent mutation involving the same codon as the established Arg3500-to-Gln mutation. The two other mutations detected, CTT3517 → CTG and GCC3527 → GCT, resulted in degenerate codons with no amino acid substitutions. All four mutations were associated with a unique apo B haplotype, different from those found in Caucasian FDB patients but concurring with that previously reported for two other Asians with FDB.
Source Title: Clinical Chemistry
URI: http://scholarbank.nus.edu.sg/handle/10635/113426
ISSN: 00099147
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