中国人群脂蛋白脂肪酶基因突变与高脂血症的相关性研究.pdfVIP

Journal of Genetics and Genomics 381 (Formerly Acta Genetica Sinica) May 2007, 34(5): 381-391 Research Article Genetic Screening of the Lipoprotein Lipase Gene for Muta- tions in Chinese Subjects with or without Hypertriglyceride- mia Yuhong Yang, Yunxiang Mu, Yu Zhao, Xinyu Liu, Lili Zhao, Junmei Wang, Yonghong Xie① Department of Biochemistry, Tianjin Medical University, Tianjin 300070, China Abstract: Objective: To investigate the association between the mutations in lipoprotein lipase gene and hypertriglyceridemia (HTG). Methods: The lipoprotein lipase (LPL) gene was screened for mutations in 386 Chinese subjects with (108 cases in the HTG group) or without HTG (278 cases in the control group), by single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. Results: One novel silent mutation L103L, one missense mutation P207L, three splicing mutations Int3/3’ -ass/C(-6)→ T, and the common S447X polymorphism has been identified in the whole coding region and exon-intron junctions of the LPL gene were examined. Heterozygous P207L found in the HTG group was the first case reported in Asia and subsequently another P207L heterozygote was found in the proband’s family, all of which suggested that P207L was one of the causes of familial combined hy- perlipidemia, but was not so prevalent as that in French Canadian. Int3/3’-ass/C(-6)→T was found in both groups in the present study although it was regarded as a pathogenic variant to HTG earlier on. Moreover about the beneficial polymorphism S447X, there was also some supportive evidence that the levels of triglycerides (TG) in S447X carriers were significantly lower than non- carriers in the subjects without HTG. Conclusions: The association between t