Mahfouz Rami A R, Sabbagh Amira S, Shammaa Dina M R, Otrock Zaher K, Zaatari Ghazi S, Taher Ali T
American University of Beirut Medical Center, Department of Pathology, Laboratory Of Medicine, Riad El Sol, Beirut, Lebanon.
Mol Biol Rep. 2008 Sep;35(3):375-8. doi: 10.1007/s11033-007-9096-0. Epub 2007 May 22.
We studied the distribution of the Factor XIII gene V34L polymorphism in a sample of healthy Lebanese individuals to assess its prevalence and compare it with other populations. Factor XIII genotypes were determined using the Cardiovascular Disease (CVD) StripAssay (ViennaLab, Austria), which is based on a Polymerase Chain Reaction-Reverse hybridization technique. DNA from 205 unrelated healthy donors from our HLA database was used. The prevalence of Wild type, heterozygous, and homozygous genotypes was found to be 74.2%, 22.4%, and 3.4% respectively. The sampled Lebanese population showed that the prevalence of V34L carriers (25.8%) was lower than Caucasians in general (44.3%) and, interestingly, with a low allele frequency of 0.14 similar to that in Blacks and South Asians. This first report from Lebanon sheds light on an additional unique genetic feature of this population and will prospectively serve as a baseline statistical data for future investigations of the prevalence of Factor XIII V34L mutation in association with various clinical entities notably cardiovascular diseases.
我们研究了健康黎巴嫩人群样本中凝血因子 XIII 基因 V34L 多态性的分布情况，以评估其患病率，并与其他人群进行比较。使用基于聚合酶链反应-反向杂交技术的心血管疾病（CVD）条带检测法（奥地利维也纳实验室）确定凝血因子 XIII 基因型。使用了来自我们 HLA 数据库的 205 名无亲缘关系的健康供体的 DNA。发现野生型、杂合子和纯合子基因型的患病率分别为 74.2%、22.4%和 3.4%。抽样的黎巴嫩人群显示，V34L 携带者的患病率（25.8%）总体低于高加索人（44.3%），有趣的是，其等位基因频率较低，为 0.14，与黑人和南亚人相似。黎巴嫩的这篇首次报告揭示了该人群的另一个独特遗传特征，并将前瞻性地作为未来调查凝血因子 XIII V34L 突变与各种临床实体（尤其是心血管疾病）患病率相关情况的基线统计数据。
