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目的:探索β-fib基因多态性与中国汉族人群前交叉韧带(anterior cruciate ligament,ACL)损伤发生的关系。方法:收集105名ACL损伤的汉族患者,以110名无ACL损伤史的汉族个体作为对照,通过限制性片段长度多态性(restriction fragment length polymorphism,RFLP)分析、测序技术对β-fib基因启动子区单核苷酸多态性(single nucleotide polymorphisms,SNPs)进行检测并分型,开展病例对照关联分析。结果:β-fib基因启动子区共检出6个SNPs,包括;β-148C/T(rs1800787)、β-249C/T(rs1800788)、β-455G/A(rs1800790)、β-854G/A(rs1800791)、β-933G/A(rs2227389)、β-1420G/A(rs1800789),其中rs1800790、rs1800788和rs1800787的AG、CT和CT基因表型频率在病例组中高于对照组(P<0.05)。rs2227389-rs1800791-rs1800790单倍型C G A*、T G A*、T G G*在病例组和对照组中也显示统计学差异。结论:在中国汉族人群,β-fib基因启动子区rs1800790、rs1800788和rs1800787及其单倍型可能与ACL损伤的发生相关。
Objective: To explore the relationship between β-fib gene polymorphism and the incidence of anterior cruciate ligament (ACL) injury in Chinese Han population. Methods: A total of 105 Chinese Han patients with ACL injury were enrolled in this study. One hundred and ten Han Chinese individuals without any history of ACL injury were enrolled in this study. The restriction fragment length polymorphism (RFLP) Sub-region single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs) were detected and typed to carry out case-control association analysis. RESULTS: Six SNPs were detected in the promoter region of β-fib gene, including β-148C / T (rs1800787), β -249C / T (rs1800788), β-455G / A The frequencies of AG, CT and CT gene of rs1800790, rs1800788 and rs1800787 were higher in the case group than those in the control group (P <0.05). The frequencies of AG, CT and CT gene of rs1800791, β-933G / A rs2227389 and β-1420G / . rs2227389-rs1800791-rs1800790 haplotypes C G A *, T G A *, T G G * also showed statistical differences in case and control groups. Conclusion: The rs1800790, rs1800788, rs1800787 and haplotypes of β-fib gene promoter in Chinese Han population may be related to the occurrence of ACL injury.