中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
4期
413-419
,共7页
齐林%李建美%孙浩%黄小琴%林克勤%褚嘉祐%杨昭庆
齊林%李建美%孫浩%黃小琴%林剋勤%褚嘉祐%楊昭慶
제림%리건미%손호%황소금%림극근%저가우%양소경
心肌梗死%基因%多态性%遗传相关性
心肌梗死%基因%多態性%遺傳相關性
심기경사%기인%다태성%유전상관성
Myocardial infarction%Gene%Polymorphism%Genetic association
目的 探索凝血因子Ⅶ(coagulation factor Ⅶ,FⅦ)、凝血因子Ⅻ(coagulation factor Ⅻ,FⅫ)、人血纤蛋白原( fibrinogen,FBG)及9p21的基因多态在云南汉族人群中的分布及其与心肌梗死的相关性.方法 应用聚合酶链反应-限制性片段长度多态和焦磷酸测序分型技术对142例心肌梗死患者和192名对照者的FⅦ、FⅫ、FBG、9p21多个位点的基因进行检测分析.结果 R353Q、5′F7、C46T、-148C/T、rs1333049、rs4977574位点的多态性在心肌梗死组与对照组之间差异无统计学意义(P>0.05),-455G/A的AA基因型、rs1333040的T等位基因和TT基因型、rs10116277的T等位基因和TT基因型、rs2383207的G等位基因和GG基因型频率均显著高于对照组(P<0.05),而rs1333040的CT和rs10116277的GT基因型频率均显著低于对照组(P<0.05).结论 FⅦ、FⅫ、FBG基因的-148C/T、9p21的rs1333049位点的多态性与云南汉族心肌梗死无显著关联,FBG基因的-455G/A和9p21的rs1333040、rs10116277、rs2383207位点的多态性可能与云南汉族心肌梗死有一定的相关性.
目的 探索凝血因子Ⅶ(coagulation factor Ⅶ,FⅦ)、凝血因子Ⅻ(coagulation factor Ⅻ,FⅫ)、人血纖蛋白原( fibrinogen,FBG)及9p21的基因多態在雲南漢族人群中的分佈及其與心肌梗死的相關性.方法 應用聚閤酶鏈反應-限製性片段長度多態和焦燐痠測序分型技術對142例心肌梗死患者和192名對照者的FⅦ、FⅫ、FBG、9p21多箇位點的基因進行檢測分析.結果 R353Q、5′F7、C46T、-148C/T、rs1333049、rs4977574位點的多態性在心肌梗死組與對照組之間差異無統計學意義(P>0.05),-455G/A的AA基因型、rs1333040的T等位基因和TT基因型、rs10116277的T等位基因和TT基因型、rs2383207的G等位基因和GG基因型頻率均顯著高于對照組(P<0.05),而rs1333040的CT和rs10116277的GT基因型頻率均顯著低于對照組(P<0.05).結論 FⅦ、FⅫ、FBG基因的-148C/T、9p21的rs1333049位點的多態性與雲南漢族心肌梗死無顯著關聯,FBG基因的-455G/A和9p21的rs1333040、rs10116277、rs2383207位點的多態性可能與雲南漢族心肌梗死有一定的相關性.
목적 탐색응혈인자Ⅶ(coagulation factor Ⅶ,FⅦ)、응혈인자Ⅻ(coagulation factor Ⅻ,FⅫ)、인혈섬단백원( fibrinogen,FBG)급9p21적기인다태재운남한족인군중적분포급기여심기경사적상관성.방법 응용취합매련반응-한제성편단장도다태화초린산측서분형기술대142례심기경사환자화192명대조자적FⅦ、FⅫ、FBG、9p21다개위점적기인진행검측분석.결과 R353Q、5′F7、C46T、-148C/T、rs1333049、rs4977574위점적다태성재심기경사조여대조조지간차이무통계학의의(P>0.05),-455G/A적AA기인형、rs1333040적T등위기인화TT기인형、rs10116277적T등위기인화TT기인형、rs2383207적G등위기인화GG기인형빈솔균현저고우대조조(P<0.05),이rs1333040적CT화rs10116277적GT기인형빈솔균현저저우대조조(P<0.05).결론 FⅦ、FⅫ、FBG기인적-148C/T、9p21적rs1333049위점적다태성여운남한족심기경사무현저관련,FBG기인적-455G/A화9p21적rs1333040、rs10116277、rs2383207위점적다태성가능여운남한족심기경사유일정적상관성.
Objective To determine frequencies of genetic polymorphisms of coagulation factor Ⅶ (F Ⅶ),coagulation factor F Ⅻ (F Ⅻ ),fibrinogen (FBG) and 9p21 in ethnic Han Chinese from Yunnan province,and to assess the association between such polymorphisms and onset of myocardial infarction (MI).Methods One hundred and forty-two patients with MI and 192 healthy controls were analyzed.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and pyrosequencing were used to determine the genotypes of FⅦ,FⅫ,FBG and 9p21.Results No significant difference was found between in the frequencies of R353Q,5′F7,C46T,-148C/T,rs1333049 and rs4977574 loci between the two groups (P>0.05).However,the frequencies of AA of -455G/A,T and TT of rs1333040,T and TT of rs10116277 and G and GG of rs2383207 were significantly higher in MI group compared with the controls (P<0.05),whilst the frequencies of CT of rs1333040 and GT of rs10116277 were significantly lower in MI group compared with the controls (P<0.05).Conclusion Polymorphisms of FⅦ,FⅫ,-148C/T of FBG and rs1333049 of 9p21 were not associated with myocardial infarction.Polymorphisms of -455G/A of FBG and rs1333040,rs10116277 and rs2383207 of 9p21 may be associated with MI in ethnic Han Chinese from Yunnan province.