CAJ | 학술논문

目的观察纤维蛋白原β(FGB)启动子区单倍型对特发型下肢深静脉血栓(IDVT)的影响.方法 IDVT组及健康对照组各120例.采用启动子区完整测序技术及聚合酶链反应-限制性片段长度多态性(PCR-RFLP)双重检测纤维蛋白原β链基因启动子区-1 420G/A、-993 C/T、-854G/A、-455 G/A、-249C/T和-148C/T单核苷酸多态性(SNP)及基因型,对上述SNP连锁不平衡分析并构建单倍型模型.结果-993 C/T与-455 G/A、-993 C/T与-148C/T、-455 G/A与-148C/T之间存在较强的连锁不平衡关系(r2分别为0.699、0.509和0.556);构建出8种单倍型模型:单倍型H3、H6在病例组中的频率高于对照组[比值比(OR)分别为32.085和1.896,P＜0.05];单倍型H1、H4、H5和H7在对照组中的频率高于病例组(OR值分别为0.025、0.119、0.644和0.383,P ＜0.05);其余单倍型(H2和H8)在两组之间差异无统计学意义(P＞0.05).结论单倍型H3、H6可能是下肢深静脉血栓(DVT)的危险因素;单倍型H1、H4、H5和H7可能是DVT的保护因素.
목적 관찰섬유단백원β(FGB)계동자구단배형대특발형하지심정맥혈전(IDVT)적영향.방법 IDVT조급건강대조조각120례.채용계동자구완정측서기술급취합매련반응-한제성편단장도다태성(PCR-RFLP)쌍중검측섬유단백원β련기인계동자구-1 420G/A、-993 C/T、-854G/A、-455 G/A、-249C/T화-148C/T단핵감산다태성(SNP)급기인형,대상술SNP련쇄불평형분석병구건단배형모형.결과-993 C/T여-455 G/A、-993 C/T여-148C/T、-455 G/A여-148C/T지간존재교강적련쇄불평형관계(r2분별위0.699、0.509화0.556);구건출8충단배형모형:단배형H3、H6재병례조중적빈솔고우대조조[비치비(OR)분별위32.085화1.896,P＜0.05];단배형H1、H4、H5화H7재대조조중적빈솔고우병례조(OR치분별위0.025、0.119、0.644화0.383,P ＜0.05);기여단배형(H2화H8)재량조지간차이무통계학의의(P＞0.05).결론 단배형H3、H6가능시하지심정맥혈전(DVT)적위험인소;단배형H1、H4、H5화H7가능시DVT적보호인소.
Objective To investigate the relationship between haplotypes in the promoter region of fibrinogen gene β and idiopathic deep venous thrombosis (IDVT).Methods A prospective analysis was performed from both IDVT group and control group (n =120 each).Dual inspections including both long segmental gene sequencing technique and polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) were adopted involving the promoter region of fibrinogen gene β.Possible single nucleotide polymorphism (SNP) (-1 420G/A,-993C/T,-854G/A,-455G/A,-249C/T and -148C/T) in this region were detected,followed by genetype determination.In addition,linkage disequilibrium (LD) and haplotypes were analyzed by EH + program.Results A stronger LD was confirmed between-993C/T and-455G/A (r2 =0.699) ; between-993C/T and-148C/T (r2 =0.509) ; between-455G/A and-148C/T (r2 =0.556); 8 species of haplotype modes were constructed:Haplotypes H3 and H6 presented a higher incidence in IDVT group [odds ratio (OR) =32.085/1.896,respectively,all P ＜0.05]; Haplotypes H1,H4,H5 and H7 presented a higher incidence in control group (OR =0.025,0.119,0.644,0.383,respectively,all P ＜0.05) ; haplotypes H2 and H8 showed no discrepancy (all P ＞ 0.05).Conclusion Haplotypes H3 and H6 might be susceptive to deep venous thrombosis (DVT) attack; Haplotypes H1,H4,H5 and H7 might be protective for DVT onset.