金华地区男性肝脂酶多态性分布研究  

Polymorphism of hepatic lipase gene in male of Jinhua district

作　　者：施金俏[1] 倪培华[2] 郑寿贵 俞北伟 应雅韵[2] 周益琴[1] 郭辉[1] 徐娇君[1] 王惠姣[1] 周燕霞[1] 王文琴[1] 

机构地区：[1]金华市人民医院检验科,浙江金华321000 [2]上海交通大学医学院检验系,上海200025 [3]金东区疾控中心,浙江金华321000

出　　处：《国际检验医学杂志》2014年第2期136-139,共4页International Journal of Laboratory Medicine

基　　金：浙江省金华市科技研究项目(200703012)

摘　　要：目的探讨肝脂酶(HL)基因启动子-250G/A、-514C/T、-710T/C、-763A/G多态性在浙江金华地区的分布及与脂类代谢间的关系。方法采用聚合酶链反应-限制性片段长度多态性技术检测中国金华地区355例健康男性的HL基因启动子-250G/A、-514C/T、-710T/C和-763A/G的多态性,并探讨基因多态性与血脂指标间的关系。355例研究对象按年龄分组,6～7岁组74例,18～<20岁组109例,20～<40岁组67例,40～73岁组105例。结果 4组间HL基因启动子-250G/A的基因型分布和等位基因频率差异均无统计学意义(P>0.05)。HL-514C/T多态性的基因型频率分布显示,18～<20岁组与6～7岁组及40～73岁组间的差异均有统计学意义(P<0.05)。HL-710T/C、-763A/G多态性的基因型和等位基因频率分布显示,40～73岁组与6～7岁组及18～<20岁组间的差异均有统计学意义(P<0.05)。HL基因多态性与血液脂代谢有关。HL-250G/A、-514C/T、-710T/C和-763A/G间存在强连锁不平衡。结论 HL-250G/A、-514C/T、-710T/C和-763A/G间存在强连锁不平衡,HL基因启动子多态性可能与脂类的代谢有关。Objective To investigate the correlation of potymorphism of hepatic lipase（HL） gene promoter --250G/A,--514C/ T,--710T/C and --763A/G with lipid metabolisms in people of Jinhua district,Zhejiang province. Methods Genotypes of hepatic lipase gene promoter --250G/A,- 514C/T,-710T/C and -763A/G were determined by polymerase chain reaction-restriction fragment length polymorphism in 355 healthy males of different age groups： 6-7 years dd 74 cases, 18-19 years dd 109 cases, 20 -39 years dd 67 cases,and 40-73 years dd 105 cases. The correlation of this polymorphism with serum lipid level was analyzed. Results No significant difference was found in genotype distribution and allelie frequency of HL-250G/A（P〉0. 05）. Genotype distribution and allelic frequency of HL-514C/T differed significantly（P（0.05） between 18-〈20 years old group,differed sig- nificantly （P〈0.05） 6-7 years old group and 40-73 years old group. Genotype distribution and allelie frequency of HL-710T/ C and -763A/G in 40-73 years group were significantly different （P〈0.05） with that of 6-7 years group and 18-〈20 years group. HL polymorphism was correlated with lipid metabolism,and a strong linkage disequilibrium was found on HL-250G/A,- 514C/T,-710T/C and -763A/G. Conclusion Correlation is found between HL polymorphism and lipid metabolism,and a strong linkage disequilibrium occurs on HL-250G/A,-514C/T,-710T/C and -763A/G.

关 键 词：肝脂酶 等位基因 多态性 限制性片段长度 

分 类 号：R44[医药卫生—诊断学]