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血小板糖蛋白Ia分子的数量与基因连锁的807 C/T和HPA-5多态性相关。

The number of platelet glycoprotein Ia molecules is associated with the genetically linked 807 C/T and HPA-5 polymorphisms.

作者信息

Corral J, Rivera J, González-Conejero R, Vicente V

机构信息

Unit of Onco-Hematology, School of Medicine, Hospital General Universitario, Centro Regional de Hemodonación, Murcia, Spain.

出版信息

Transfusion. 1999 Apr;39(4):372-8. doi: 10.1046/j.1537-2995.1999.39499235668.x.

Abstract

BACKGROUND

The neutral 807 C/T (Phe224) polymorphism (807 C/T polymorphism) of the glycoprotein (GP)Ia gene has been recently associated with the number of GPIa molecules on the platelet surface. The association of the number of GPIa molecules with other GPIa polymorphisms, such as HPA-5 (Glu/Lys505) (HPA-5 polymorphism), involved in alloimmune thrombocytopenias is unknown.

STUDY DESIGN AND METHODS

The association of the HPA-5 polymorphism with the number of GPIa molecules on the platelet surface in 159 white blood donors was investigated. The genetic linkage between the HPA-5 and the 807 C/T polymorphisms in 316 individuals was also determined.

RESULTS

Both the 807 C/T and HPA-5 polymorphisms correlate with the number of GPIa molecules on the platelet surface. The 807 T and HPA-5b alleles are associated with increased numbers of GPIa molecules on the platelet surface. Moreover, the HPA-5b allele is genetically linked to 15.8 percent of the 807 C alleles. Therefore, the number of GPIa molecules on the platelet surface is dependent on both GPIa polymorphisms as follows: 807 T/T, HPA-5 a/a > 807 C/T, HPA-5 a/b > 807 C/T, HPA-5 a/a > 807 C/C, HPA-5 a/b > 807 C/C, HPA-5 a/a.

CONCLUSION

Two GPIa polymorphisms (807 C/T and HPA-5) responsible for the variability in the numbers of GPIa/IIa molecules on the platelet surface in whites have been identified. Despite the genetic linkage between the two polymorphisms, their influence on the number of GPIa molecules on the platelet surface may occur through different mechanisms.

摘要

背景

糖蛋白(GP)Ia基因的中性807C/T(Phe224)多态性(807C/T多态性)最近已被证明与血小板表面GPIa分子的数量有关。GPIa分子数量与其他GPIa多态性(如参与同种免疫性血小板减少症的HPA-5(Glu/Lys505)(HPA-5多态性))之间的关联尚不清楚。

研究设计与方法

研究了159名白种人献血者中HPA-5多态性与血小板表面GPIa分子数量之间的关联。还确定了316名个体中HPA-5和807C/T多态性之间的遗传连锁关系。

结果

807C/T和HPA-5多态性均与血小板表面GPIa分子数量相关。807T和HPA-5b等位基因与血小板表面GPIa分子数量增加有关。此外,HPA-5b等位基因与15.8%的807C等位基因存在遗传连锁。因此,血小板表面GPIa分子数量取决于以下两种GPIa多态性:807T/T,HPA-5 a/a > 807C/T,HPA-5 a/b > 807C/T,HPA-5 a/a > 807C/C,HPA-5 a/b > 807C/C,HPA-5 a/a。

结论

已确定两种导致白种人血小板表面GPIa/IIa分子数量变异的GPIa多态性(807C/T和HPA-5)。尽管这两种多态性之间存在遗传连锁,但它们对血小板表面GPIa分子数量的影响可能通过不同机制发生。

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