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A Study on the Mutations in Exon 9 of LPL Gene

Author: ZhaoYu
Tutor: JieYongHong
School: Tianjin Medical University
Course: Biochemistry and Molecular Biology
Keywords: lipoprotein lipase (LPL) gene mutation polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) hypertriglyceridemia
CLC: Q754
Type: Master's thesis
Year: 2005
Downloads: 45
Quote: 0
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Abstract


Lipoprotein lipase (LPL) plays an important role in lipoprotein metabolism by hydrolyzing triglyceride-rich lipoproteins such as chylomicrons and very low density lipoprotein. The major deficiency of LPL can cause hypertriglyceridemia, which is often the result of gene mutations. LPLSer447Ter found in 1990 is a consequence of a C→G transversion at nucleotide 1595 in exon 9 of LPL gene, converting the serine 447 codon (TCA) to a premature termination codon (TGA). Many researchers discovered that Ser447Ter group was associated with lower TG levels and higher HDLc levels than the controls, and to compare with the coronary group, frequency of this mutation is higher in the non- coronary group. Ser447Ter variant has been reported to have beneficial effect on TG and HDL-c in patients with CHD or normal subjects. But there are contrary opinions, the influence of this mutation upon the blood lipids exists the controversy. To investigate distribution of gene mutations in LPL exon 9 in Chinese population and to study the possible effects of the mutation on plasma lipids, variants were screened by PCR-SSCP and DNA sequencing. Ser447→stop polymorphism was identified by PCR-RFLP . the plasma lipids in stop447 carrier group and stop447 noncarrier group were compared and analysis.The frequencies of stop447 allele is 9.4% in the 420 subjects with normal TG

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