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

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

Date

2000-11-24

Authors

Abstract

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.

Description

Chotmaihet Thangphaet.

Citation

Tirawanchai N, Yamwong P, Pongrapeeporn KU, Likidlilid A, Ong-Ajyooth S, Amornrattana A. Screening for a D9N common mutation in exon 2 of the LPL gene in Thai normolipidemic and hyperlipidemic subjects. Journal of the Medical Association of Thailand. 2000 Nov; 83 Suppl 2(): S54-60