在静脉血栓症中,对活性蛋白C的遗传耐药性和因子V基因突变之间的联系
1Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
Lancet (London, England)
|June 18, 1994
概括
活性蛋白C (APC) 耐药性是家族性血栓形成的原因,与V因子基因密切相关. 这个基因的特定突变被确定为血栓友的最常见的遗传原因.
科学领域:
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
- 分子生物学分子生物学
背景情况:
- 活性蛋白C (APC) 耐药性是家族性血栓友爱症的重要危险因素.
- 纯化V因子的抗凝剂活性可以纠正APC抵抗.
研究的目的:
- 为了研究APC耐药性和V因子基因之间的遗传联系,在一个血栓友爱家庭.
- 为了确定负责APC耐药性的特定基因突变.
主要方法:
- 对因子V基因第13个特异体中的限制片段长度多态的分析.
- 在14个家庭成员中进行遗传联系分析.
- 用DNA测序来识别点突变.
主要成果:
- 在因子V基因多态和APC耐药性之间观察到100%的联系.
- 在受影响个体中,在V因子的APC切割部位中发现了一种特定的点突变 (Arg506Gln).
- 这种突变在同类中的所有抗APC个体中都被发现.
结论:
- 因子V基因突变与APC耐药性和家族性血栓ophilia强烈相关.
- 这种特定的V因子基因突变可能是血栓友的最常见的遗传原因.
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