title: Screening for a D9N common mutation in exon 2 of the LPL gene in Thai normolipidemic and hyperlipidemic subjects.
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.
authors.affiliation: Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: N
authors.initials: N
authors.lastname: Tirawanchai
authors.forename: P
authors.initials: P
authors.lastname: Yamwong
authors.forename: K U
authors.initials: KU
authors.lastname: Pongrapeeporn
authors.forename: A
authors.initials: A
authors.lastname: Likidlilid
authors.forename: S
authors.initials: S
authors.lastname: Ong-Ajyooth
authors.forename: A
authors.initials: A
authors.lastname: Amornrattana
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000201:enzymology* / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013785:Thailand
chemical_list: D008071:Lipoprotein Lipase