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Original ArticleOpen Access
Screening for a D9N Common Mutation in Exon 2 of the LPL Gene in Thai Normolipidemic and Hyperlipidemic Subjects
Tirawanchai N 
,
Yamwong P ,
Pongrapeepom K ,
Likidlilid A ,
OngAjyooth S ,
Amornrallana A
,
Yamwong P ,
Pongrapeepom K ,
Likidlilid A ,
OngAjyooth S ,
Amornrallana A 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.
Key word : Lipoprotein Lipase, Exon 2, D9N Mutation
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.
Key word : Lipoprotein Lipase, Exon 2, D9N Mutation
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