金华地区男性肝脂酶多态性分布研究

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一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HI。基因启动子－250G／A、－514C／T、－710T／C和一763A／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HI，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〉O．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〈O．05）。HL基因多态性与血液脂代谢有关。HL－250G／A、－514C／T、－710T／C和一763A／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。

Polymorphism of hepatic lipase gene in male of Jinhua district

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.