Screening for a D9N common mutation in exon 2 of the LPL gene in Thai normolipidemic and hyperlipidemic subjects.
Article
in English
| IMSEAR
| ID: sea-44025
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Thailand
/
Polymorphism, Restriction Fragment Length
/
Female
/
Humans
/
Male
/
DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Exons
/
Adult
/
Electrophoresis, Agar Gel
Type of study:
Diagnostic study
/
Screening study
Country/Region as subject:
Asia
Language:
English
Year:
2000
Type:
Article
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