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Clinical Chemistry 43: 916-923, 1997;
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(Clinical Chemistry. 1997;43:916-923.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

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

Meng-Ling Choong1, Evelyn S. C. Koay1,2,a, Kah-Lin Khoo3, Min-Cheh Khaw2 and Sunil K. Sethi1,2

1 Department of Pathology, National University of Singapore, Singapore 119260.

2 Department of Laboratory Medicine, National University Hospital, Singapore 119074.

3 Pantai Medical Centre, Kuala Lumpur, Malaysia.
a Author for correspondence. Fax (065)7780671; e-mail patkoaye{at}nus.sg

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.


Key Words: indexing terms: population screening • genetic screening • heritable disorders




The following articles in journals at HighWire Press have cited this article:


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C. R. Pullinger, D. Gaffney, M. M. Gutierrez, M. J. Malloy, V. N. Schumaker, C. J. Packard, and J. P. Kane
The apolipoprotein B R3531C mutation: characteristics of 24 subjects from 9 kindreds
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Association of Mutations in the Apolipoprotein B Gene with Hypercholesterolemia and the Risk of Ischemic Heart Disease
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D.-Y. Tai, J.-P. Pan, and G.-J. Lee-Chen
Identification and haplotype analysis of apolipoprotein B-100 Arg3500->Trp mutation in hyperlipidemic Chinese
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