卵磷脂胆固醇酰基转移酶基因多态性与家族聚集性脑出血及血脂的相关性
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湖南省卫生厅科研基金资助课题(B2007019)


The Association Between Lecithin:Cholesterol Acyltransferase Gene Polymorphism and the Phenomenon of Familial Aggregation of Cerebral Hemorrhage and Lipid
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    摘要:

    目的探讨卵磷脂胆固醇酰基转移酶基因多态性与湖南地区汉族人群家族聚集性脑出血及血脂的关系。方法采用聚合酶链反应限制性片长多态性分析法检测湖南地区汉族人群10个有家族聚集现象脑出血家系126例成员、100例散发性脑出血患者和100例正常对照者的卵磷脂胆固醇酰基转移酶608C/T位点基因型分布情况。结果卵磷脂胆固醇酰基转移酶基因608C/T的CT基因型分布在三个人群均符合Hardy-Weinberg平衡,家系患者及各级亲属组、散发性脑出血组608C/TCT基因型、T等位基因频率与对照组相比差异无显著性(P>0.05)。家族聚集现象脑出血组和散发性脑出血组608CC亚组患者高密度脂蛋白胆固醇水平均显著高于同组608CT亚组(P<0.05)。结论卵磷脂胆固醇酰基转移酶基因608C/T位点多态性可能与中国湖南地区汉族人群家族聚集性脑出血无关,T等位基因可能与高密度脂蛋白胆固醇代谢有关。

    Abstract:

    Aim To explore the association of lecithin:cholesterol acyltransferase(LCAT)gene polymorphism with the occurrence of familial aggregation of cerebral hemorrhage and lipid.Methods LCAT gene 608C/T polymorphism was detected by polymerase chain reaction(PCR)and restriction fragment length polymorphism(RFLP)in 10 families of cerebral hemorrhage with family history(CHFH)including 30 cerebral hemorrhage patients(CHFH-P),38 first degree relatives(CHFH-Ⅰ),31 second degree relatives(CHFH-Ⅱ),27 third degree relatives(CHFH-Ⅲ),100 patients with sporadic cerebral hemorrhage(SCH)and 100 healthy controls.Results The distribution of LCAT 608C/T gene polymorphism was in accordance with Hardy-Weinberg balance in the three groups.The CT genotype frequency and T allele frequency in familial aggregation of cerebral hemorrhage group,sporadic cerebral hemorrhage group were not significantly higher than those in control group.The serum level of high density lipoprotein cholesterol(HDLC)in 608CC genotype subgroup was significantly higher than that in 608CT genotype subgroup of the same group in familial aggregation of cerebral hemorrhage group,sporadic cerebral hemorrhage group(P<0.05).Conclusion There is probably no association of 608C/T polymorphism of LCAT gene with familial aggregation of cerebral hemorrhage in han population of Hunan province.T alleles of 608C/T are possibly associated with the metabolism of HDLC.

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高达,王依宁,许宏伟,张乐,夏健,刘运海,杨期东.卵磷脂胆固醇酰基转移酶基因多态性与家族聚集性脑出血及血脂的相关性[J].中国动脉硬化杂志,2010,18(3):227~230.

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  • 收稿日期:2009-12-17
  • 最后修改日期:2010-03-04
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