CAJ | 학술논문

为进行脂蛋白脂肪酶基因突变与中国人群高脂血症的相关性研究,采用单链构象多态性分析结合DNA序列测定的方法,对386例(其中108例高脂血症患者,278例正常对照)中国人群进行突变筛查.结果发现1个新的沉默突变L103L,1个错义突变P207L,3个剪接突变Int3/3'-ass/C(-6)→T和普遍存在的S447X多态性,其中发生在高脂血症组的P207L杂合子为亚洲首报,并对先证者的家系进行了研究,认为P207L是家族性高脂血症的病因之一,而在正常对照组中也有发现的Int3/3'-ass/C(-6)→T,对以往研究认为其是高脂血症易患因素的观点提出了相反的报告,对于普遍认为有益的多态性位点S447X,进一步研究认为其对于正常人群,特别是健康男性的保护作用更强.结论:脂蛋白脂肪酶基因变异与高脂血症的相关性十分复杂多样,大规模的人群筛查具有重要意义.
위진행지단백지방매기인돌변여중국인군고지혈증적상관성연구,채용단련구상다태성분석결합DNA서렬측정적방법,대386례(기중108례고지혈증환자,278례정상대조)중국인군진행돌변사사.결과발현1개신적침묵돌변L103L,1개착의돌변P207L,3개전접돌변Int3/3'-ass/C(-6)→T화보편존재적S447X다태성,기중발생재고지혈증조적P207L잡합자위아주수보,병대선증자적가계진행료연구,인위P207L시가족성고지혈증적병인지일,이재정상대조조중야유발현적Int3/3'-ass/C(-6)→T,대이왕연구인위기시고지혈증역환인소적관점제출료상반적보고,대우보편인위유익적다태성위점S447X,진일보연구인위기대우정상인군,특별시건강남성적보호작용경강.결론:지단백지방매기인변이여고지혈증적상관성십분복잡다양,대규모적인군사사구유중요의의.
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 hyperlipidemia, 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 noncarriers in the subjects without HTG. Conclusions: The association between the LPL variants and HTG is quite complicated and versatile, genotyping of LPL in a larger-scale screening should be necessary and justifiable.