Publication: Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: Detection of a novel mutation D151Y by PCR-CFLP
Issued Date
2000-11-01
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ISSN
01252208
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2-s2.0-0034328420
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.83, No.SUPPL. 2 (2000)
Suggested Citation
Klai Upsorn S. Pongrapeeporn, Vallaya Sutthikhum, Atip Likidlilid, Saiphon Poldee, Aree Futrakul, Preyanuj Yamwong, Anchalee Amornrattana, Sompong Ong-Ajyooth Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: Detection of a novel mutation D151Y by PCR-CFLP. Journal of the Medical Association of Thailand. Vol.83, No.SUPPL. 2 (2000). Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26122
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Title
Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: Detection of a novel mutation D151Y by PCR-CFLP
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Abstract
A mutation in low density lipoprotein (LDL) receptor gene causes an autosomal codominant disorder namely familial hypercholesterolemia (FH). Mutations in the LDL receptor gene are very heterogeneous at the DNA levels, occurring in all 18 exons of the gene. However, exon 4 has been found to be the hot spot for mutational events. In this study DNA from 45 Thai subjects with primary hypercholesterolemia was screened for mutations in the hot spot exon 4. The DNA samples were amplified by Polymerase Chain Reaction (PCR) and screened for mutation by Cleavase Fragment Length Polymorphism (CFLP) technique. Identification of mutation was per-formed by direct sequencing of PCR product. From this screening, one female patient was found to be heterozygous for a novel mutation which was due to a G to T transversion at nucleotide 514. This transversion would change the species-conserved amino acid at codon 151 from charged R group aspatic (GAC) to uncharged R group tyrosine (TAC), termed D151Y. From the same screening strategy, we found that this mutation was absent in 33 healthy normolipidemic subjects. In this index subject, Arg 3500 Gln mutation in apo B-100 gene, causing hypercholesterolemia namely familial defective apo B-100 (FDB), was not found. Therefore, hypercholesterolemia in this index subject was possibly caused by the D151Y mutation in the LDL receptor gene.
