沙特新生儿卒中患者凝血因子 V Leiden G1691A 和凝血酶原 G20210A 突变的分子特征。

Molecular characterization of factor V leiden G1691A and prothrombin G20210A mutations in Saudi newborns with stroke.

机构信息

Biochemistry Department, Faculty of Science, Female Centre for Scientific and Medical Colleges, King Saud University, P.O. Box 7897-232, Riyadh 11159, Kingdom of Saudi Arabia.

出版信息

Biochem Genet. 2011 Oct;49(9-10):601-10. doi: 10.1007/s10528-011-9435-7. Epub 2011 Apr 2.

DOI:10.1007/s10528-011-9435-7

PMID:21461667

Abstract

This study examined a possible association between the mutations related to Factor V Leiden and Factor II (prothrombin) and stroke in Saudi neonates. A multiplex PCR was established to detect Factor V Leiden G1691A and prothrombin G20210A mutations in 72 neonatal stroke subjects and 70 healthy adult controls with no family history of thromboembolic diseases. The frequency of the homozygous normal genotype (GG) of both genes was found to be significantly lower in the stroke subjects than in the controls (P < 0.0001). The stroke cases also had higher frequencies of the combined Factor II heterozygous mutant form (GA) and the homozygous normal Factor V (GG) (P < 0.0001) and of the combined heterozygous Factor V and the homozygous normal Factor II genotypes (GG) (P = 0.0) than controls. The study concluded that prothrombin and Factor V Leiden may be important risk factors for neonatal stroke in Saudi children.

摘要

本研究旨在探讨沙特新生儿卒中与凝血因子 V 莱顿（Factor V Leiden）和凝血因子 II（凝血酶原）相关突变之间的可能关联。我们建立了多重 PCR 方法，以检测 72 例新生儿卒中患者和 70 例无血栓栓塞性疾病家族史的健康成年对照者中凝血因子 V 莱顿 G1691A 和凝血酶原 G20210A 突变。结果发现，卒中组中两种基因的纯合正常基因型（GG）频率明显低于对照组（P < 0.0001）。卒中病例中同时存在凝血酶原杂合突变形式（GA）和凝血因子 V 纯合正常（GG）（P < 0.0001）以及凝血因子 V 和凝血酶原 II 杂合正常基因型（GG）（P = 0.0）的频率也明显高于对照组。本研究的结论是，凝血酶原和凝血因子 V 莱顿可能是沙特儿童新生儿卒中的重要危险因素。