Apo(a) PNR基因多态性和青光眼发病的相关性分析

目的:研究载脂蛋白(a)[Apo(a)]五核苷酸重复序列(PNR)基因(TTTTA)n多态性在中国大陆地区一原发性开角型青光眼(POAG)家系中的分布情况,探讨其与青光眼发病的关系。方法:采用聚合酶链反应(PCR)结合聚丙烯酰胺凝胶电泳(PAGE)分析家系中37个成员和180个健康体检者的Apo(a)PNR基因型。同时测定家系和正常对照组中各成员的Lp(a)、TC、TG、HDL-C、LDL-C、ApoAI、ApoB的水平进行分析。对家系中PAGE显示的不同基因型进行DNA测序分析。结果:POAG家系成员Lp(a)、TC、TG、HDL-C、LDL-C、ApoAI、ApoB水平和正常对照组无显著差异(P>0.05),Apo(a)PNR基因型在家系中出现5/8型5例,8/8型30例,8/9型2例;180例正常对照中发现5/9型1例、5/8型3例、8/8型112例、8/9型48例、8/10型4例、9/9型9例、9/10型2例、8/11型1例,家系组5/8型和8/8型显著高于对照组,8/9型显著低于对照组(P<0.05)。结论:Apo(a)PNR基因多态性可能和POAG发病相关。

Association of Apo(a) PNR Gene Polymorphism with Susceptibility to Glaucoma

Objective: To investigate the distribution of pentanucleotide repeat(PNR) polymorphism of apolipoprotein(a)(TTTTA)_n in a family suffering with primary open-angle glaucoma(POAG) in mainland of China,and to analyze the relationship between this polymorphism and pathogenesis of glaucoma.Methods: The Apo(a) PNR genotypes of 37 family members and 180 controls were examined by polymerase chain reaction(PCR) and polyacrylamide gels electrophoresis(PAGE).The concentration of Lp(a),TC,TG,HDL-C,LDL-C,ApoA I and ApoB were tested in all subjects.DNA sequencing was performed for the samples which showed different genotypes according to the results of PAGE.Results: The concentration of Lp(a),TC,TG,HDL-C,LDL-C,ApoA I and ApoB had no significant difference between POAG family members and healthy controls(all P>0.05).However,there were 3 kinds of genotypes in these family members as 5/8,8/8,and 8/9 with 5,30,and 2 individuals respectively,while in the controls,almost all the genotypes were examined.The 5/8 and 8/8 genotypes had a significantly higher frequency in the family than in controls while the 8/9 genotype is the opposite(P<0.05).Conclusion: There may be some correlation between Apo(a) PNR gene polymorphism and the pathogenesis of glaucoma,but it needs further confirmation.