Screening for a D9N Common Mutation in Exon 2 of the
LPL Gene in Thai Normolipidemic and Hyperlipidemic
Subjects
NEDNAPIS TIRA W ANCHAI, Ph.D.*,
KLAI-UPSORN PONGRAPEEPORN, Ph.D.*,
SOMPONG ONG-AJYOOTH, M.Sc. *
PREYANUJ YAMWONG, M.D.**,
A TIP LIKIDLILID, M.Sc.*,
ANCHALEE AMORNRATTANA, M.Sc**
Affiliation : * Department of Biochemistry,
** Department of Preventive Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700,
Thailand.
AbstractLipoprotein 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.
Keywords : Lipoprotein Lipase, Exon 2, D9N Mutation
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