中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
6期
653-658
,共6页
黄晖%贾绍斌%陈树兰%沙勇%马爱群%马学平%张金莉%白向荣%何琳
黃暉%賈紹斌%陳樹蘭%沙勇%馬愛群%馬學平%張金莉%白嚮榮%何琳
황휘%가소빈%진수란%사용%마애군%마학평%장금리%백향영%하림
冠状动脉粥样硬化性心脏病%凝血因子Ⅶ%遗传多态性%宁夏回、汉族
冠狀動脈粥樣硬化性心髒病%凝血因子Ⅶ%遺傳多態性%寧夏迴、漢族
관상동맥죽양경화성심장병%응혈인자Ⅶ%유전다태성%저하회、한족
coronary heart disease%coagulation factor Ⅶ%genetic polymorphism%Ningxia Hui and Han
目的 探讨血浆凝血因子Ⅶ(coagulation factorⅦ,FⅦ)水平及其基因多态性在宁夏回、汉族冠心病以及心肌梗死患者中的分布特点.方法 采用候选基因及病例一对照研究的方法,以聚合酶链反应及限制性片段长度多态性技术,对420例回族冠心病患者及508名回族健康者,以及600例汉族冠心病患者和604名汉族健康者行FVH基因的R353Q、-323 0/10 bp和HVR4多态性分析,同时采用重组可溶性组织因子法测定血浆FⅦa水平.结果 (1)回、汉族冠心病组的血浆FⅦa水平均显著高于对照组(P<0.01);回、汉族心肌梗死组的血浆FⅦa水平均显著高于心绞痛组(P<0.05).(2)R353Q基因型及等位基因频率分布在回族心肌梗死组与心绞痛组间存在统计学意义(P<0.01),-323 0/10 bp基因型及等位基因频率分布在回、汉族心肌梗死组与心绞痛组间存在统计学意义(P<0.01).(3)回族人群RR基因型血浆FⅦa水平高于Q等位基因携带者(P<0.05).结论 回、汉族人群中存在凝血因子Ⅶ基因的R353Q、-323 0/10 bp和HVR4多态性;Q等位基因是回族人群心肌梗死的遗传保护因子,FⅦa水平受其基因的R353Q多态性影响;10等位基因可能是回、汉族人群心肌梗死的遗传保护因子.
目的 探討血漿凝血因子Ⅶ(coagulation factorⅦ,FⅦ)水平及其基因多態性在寧夏迴、漢族冠心病以及心肌梗死患者中的分佈特點.方法 採用候選基因及病例一對照研究的方法,以聚閤酶鏈反應及限製性片段長度多態性技術,對420例迴族冠心病患者及508名迴族健康者,以及600例漢族冠心病患者和604名漢族健康者行FVH基因的R353Q、-323 0/10 bp和HVR4多態性分析,同時採用重組可溶性組織因子法測定血漿FⅦa水平.結果 (1)迴、漢族冠心病組的血漿FⅦa水平均顯著高于對照組(P<0.01);迴、漢族心肌梗死組的血漿FⅦa水平均顯著高于心絞痛組(P<0.05).(2)R353Q基因型及等位基因頻率分佈在迴族心肌梗死組與心絞痛組間存在統計學意義(P<0.01),-323 0/10 bp基因型及等位基因頻率分佈在迴、漢族心肌梗死組與心絞痛組間存在統計學意義(P<0.01).(3)迴族人群RR基因型血漿FⅦa水平高于Q等位基因攜帶者(P<0.05).結論 迴、漢族人群中存在凝血因子Ⅶ基因的R353Q、-323 0/10 bp和HVR4多態性;Q等位基因是迴族人群心肌梗死的遺傳保護因子,FⅦa水平受其基因的R353Q多態性影響;10等位基因可能是迴、漢族人群心肌梗死的遺傳保護因子.
목적 탐토혈장응혈인자Ⅶ(coagulation factorⅦ,FⅦ)수평급기기인다태성재저하회、한족관심병이급심기경사환자중적분포특점.방법 채용후선기인급병례일대조연구적방법,이취합매련반응급한제성편단장도다태성기술,대420례회족관심병환자급508명회족건강자,이급600례한족관심병환자화604명한족건강자행FVH기인적R353Q、-323 0/10 bp화HVR4다태성분석,동시채용중조가용성조직인자법측정혈장FⅦa수평.결과 (1)회、한족관심병조적혈장FⅦa수평균현저고우대조조(P<0.01);회、한족심기경사조적혈장FⅦa수평균현저고우심교통조(P<0.05).(2)R353Q기인형급등위기인빈솔분포재회족심기경사조여심교통조간존재통계학의의(P<0.01),-323 0/10 bp기인형급등위기인빈솔분포재회、한족심기경사조여심교통조간존재통계학의의(P<0.01).(3)회족인군RR기인형혈장FⅦa수평고우Q등위기인휴대자(P<0.05).결론 회、한족인군중존재응혈인자Ⅶ기인적R353Q、-323 0/10 bp화HVR4다태성;Q등위기인시회족인군심기경사적유전보호인자,FⅦa수평수기기인적R353Q다태성영향;10등위기인가능시회、한족인군심기경사적유전보호인자.
Objective To investigate the characteristics for activated coagulation factor Ⅶ(F Ⅶ a)and the R353Q,-323 0/10 bp,HVR4 polymorphisms in the gene in patients with coronary heart disease (CHD)and myocardial infarction from Ningxia H ui and Han populations.Methods Four hundred and twenty angiographically proven CHD patients in the Hui population,and 508 healthy blood donors were tested for their plasma levels of coagulation factor Ⅶ using recombinant tissue factor method.The coagulation factor Ⅶ gene R353Q,-323 0/10 bp and HVR4 genotypes were identified by polymerase chain reaction.In addition,600 Han patients with CHD and 604 healthy Han control subjects were also investigated.Results (1)The plasma F Ⅶ a levels was significantly higher in patients with CHD and myocardial infarction than that in healthy control subjects and angor pectoris(P<0.01)in both Hui and Han populations.(2)There were significant differences in the distribution of genotypes and allelic frequencies of the R353Q between myocardial infarction and angor pectoris disease in the Hui population (P<0.05).So was the-323 0/10 bp locus in both the Hui and Han population.(3)The F Ⅶ a level was significantly higher in individuals with RR genotype than those of Q allele carriers in the Hui population.Conclusion There are polymorphisms of the F Ⅶ gene R353Q,-323 0/10 bp and HVR4 in the Hui and Han populations.The Q allele might be a protective factor against myocardial infarction in the Hui,and the plasma F Ⅶ a level may be influenced by the R353Q polymorphism of the F Ⅶ gene.The 10 allele may be a protective factor against myocardial infarction in both the Hui and Han populations.