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科威特阿拉伯人群及静脉血栓形成患者中活化蛋白C抵抗和凝血因子V莱顿突变的高患病率。

High prevalence of activated protein C resistance and factor V Leiden mutation in an Arab population and patients with venous thrombosis in Kuwait.

作者信息

Jadaon Mehrez M, Dashti Ali A, Lewis Hend L

机构信息

Department of Medical Laboratory Sciences, Kuwait University, Kuwait.

出版信息

Diagn Mol Pathol. 2010 Sep;19(3):180-3. doi: 10.1097/00019606-201009000-00009.

Abstract

INTRODUCTION

Activated protein C resistance (APC-R) because of clotting factor V Leiden mutation (FVL; Arg506Gln; G1691A) is a risk factor for the development of venous thromboembolic disorders (VTE). APC-R/FVL was reported to be very high in White patients with VTE (15% to 65%) and healthy populations (1% to 15%), and to be very low or absent in non-White patients. Studies on Arab patients and populations were very inconsistent. This study reports APC-R and FVL in Arabs living in Kuwait.

MATERIALS AND METHODS

Whole venous blood samples were collected from 400 patients with VTE and 200 healthy controls, all of whom were of Arab ethnicity living in Kuwait. The samples were used to separate plasma for an APC-R test, and DNA extraction for polymerase chain reaction and restricted fragment length polymorphism were performed. APC-R was on an automated hemostasis analyzer, and values less than 2.0 were reported as APC-R. Polymerase chain reaction and restricted fragment length polymorphism tests were performed using standard methods, and the results were reported as normal wild-type homozygous GG, FVL homozygous AA, or FVL heterozygous GA.

RESULTS

Sixty-three out of 400 patients (15.75%) and 4 out of 200 healthy controls (2%) had APC-R and at least one copy of FVL. Fifty-one patients and 4 controls were heterozygous whereas only 12 patients were homozygous.

CONCLUSION

The prevalence of APC-R and FVL is quite high in Arabs living in Kuwait, being comparable with the prevalence reported in Whites, although being toward the lowest values reported there.

摘要

引言

由于凝血因子V莱顿突变(FVL;Arg506Gln;G1691A)导致的活化蛋白C抵抗(APC-R)是静脉血栓栓塞性疾病(VTE)发生的一个危险因素。据报道,VTE白人患者(15%至65%)和健康人群(1%至15%)中APC-R/FVL非常高,而非白人患者中则非常低或不存在。对阿拉伯患者和人群的研究结果非常不一致。本研究报告了居住在科威特的阿拉伯人中的APC-R和FVL情况。

材料与方法

从400例VTE患者和200例健康对照中采集全静脉血样本,所有受试者均为居住在科威特的阿拉伯族裔。采集的样本用于分离血浆以进行APC-R检测,并进行DNA提取用于聚合酶链反应和限制性片段长度多态性分析。APC-R检测在自动止血分析仪上进行,小于2.0的值报告为APC-R。聚合酶链反应和限制性片段长度多态性检测采用标准方法进行,结果报告为正常野生型纯合子GG、FVL纯合子AA或FVL杂合子GA。

结果

400例患者中有63例(15.75%)和200例健康对照中有4例(2%)存在APC-R且至少有一份FVL拷贝。51例患者和4例对照为杂合子,而只有12例患者为纯合子。

结论

居住在科威特的阿拉伯人中APC-R和FVL的患病率相当高,与白人中报告的患病率相当,尽管处于该报告中最低值的范围。

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