Journal of the Medical Association of Thailand. Vol.83, No.SUPPL. 2 (2000)
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Nednapis Tirawanchai, Preyanuj Yamwong, Klai Upsorn Pongrapeeporn, Atip Likidlilid, Sompong Ong-Ajyooth, Anchalee Amornrattana 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. Vol.83, No.SUPPL. 2 (2000). Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/26114
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Screening for a D9N common mutation in exon 2 of the LPL gene in Thai normolipidemic and hyperlipidemic subjects
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.
