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首页> 外文期刊>Genetic testing and molecular biomarkers >G6PD Mediterranean S188F Codon Mutation Is Common Among Saudi Sickle Cell Patients and Increases the Risk of Stroke
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G6PD Mediterranean S188F Codon Mutation Is Common Among Saudi Sickle Cell Patients and Increases the Risk of Stroke

机译：G6PD地中海S188F密码子突变是常见的沙特镰状细胞之间的病人和增加中风的危险

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摘要

To describe the molecular spectrum of G6PD gene mutation(s) in a population sample of Saudi Arabian Hemoglobin S (HBS) patients versus normal control from matching ethnicity. Additionally, we aim to investi-gate whether НВ5 patients with G6PD mutation(s) are at higher risk of developing a stroke. Methods: DNA was extracted from 48 HВS patients and 42 controls. The HBS gene was fully screened for mutations by direct sequencing. НВ5 status was determined by the presence of the GAT to GTG codon mutation. Risk of stroke status was determined by abnormally high cerebral velocities by transcranial Doppler. Time averaged means of maximum velocities higher than 2 m/s (middle, internal carotid, or anterior cerebral arteries) were considered as abnormal. Results: Screening the full G6PD gene revealed the presence of the Mediterranean G6PD mutation (S188F) in our HBS patients (47.9%) and in controls (16.7%), and this difference was statistically significant (p = 0.0017). Additionally, we found that HBS patients homozygous for the S188F mutations are at higher risk of developing a stroke (p = 0.002) than healthy controls of matching age, sex, and ethnicity. Conclusion: G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke.
机译：描述G6PD基因的分子光谱突变(s)在沙特人口样本阿拉伯血红蛋白S (HBS)患者与正常从种族匹配控制。旨在investi-gate是否НВ5患者G6PD基因突变(s)的风险更高的发展中风。患者和42个控件。通过直接测序筛查突变。地位是由手枪的存在GTG密码子突变。由大脑异常高速度决定的通过经颅多普勒检查。最大速度高于2米/秒(中间,颈内动脉、大脑前动脉)被认为是不正常的。完整的G6PD基因的存在哈佛商学院地中海G6PD基因突变(S188F)病人(47.9%)和对照组(16.7%),和这种差异具有统计学意义(p= 0.0017)。病人S188F突变纯合子患中风的风险更高(p = 0.002)比匹配的健康对照组年龄、性别、和种族。密码子突变在沙特镰状细胞中很常见患者和增加中风的风险。

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