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Screening for a D9N common mutation in exon 2 of the LPL gene in Thai normolipidemic and hyperlipidemic subjects

Tirawanchai, N.; Yamwong, P.; Pongrapeeporn, K.U.; Likidlilid, A.; Ong-Ajyooth, S.; Amornrattana, A.

Journal of the Medical Association of Thailand 83(Suppl 2): S54-S60

2000

ISSN/ISBN: 0125-2208
PMID: 11194022
Document Number: 7578
Lipoprotein lipase (LPL) is a multifunctional protein, playing a major role in the hydrolysis of triglyceride-rich lipoproteins. It also affects the maturation of high density lipoprotein (HDL) and low density lipoprotein (LDL). A D9N substitution is a frequent mutation found in exon 2 of the LPL gene. It is due to a G --> A transition causing a substitution of Asp by Asn at amino acid residue 9 of the protein. This mutation was screened for in 94 Thai primary dyslipidemic (46 hypercholesterolemic and 48 combined hyperlipidemic) subjects compared to 32 normal healthy subjects using PCR-RFLP. Such a mutation has not, yet, been detected in any of these Thai subjects.

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