一种用于识别镰状细胞贫血症中风遗传预测因子的新型多位点基因分型检测方法。
A novel multilocus genotyping assay to identify genetic predictors of stroke in sickle cell anaemia.
作者信息
Hoppe C, Cheng S, Grow M, Silbergleit A, Klitz W, Trachtenberg E, Erlich H, Vichinsky E, Styles L
机构信息
Department of Hematology/Oncology, Children's Hospital Oakland, Oakland, CA 94609, USA.
出版信息
Br J Haematol. 2001 Sep;114(3):718-20. doi: 10.1046/j.1365-2141.2001.02997.x.
We describe a novel multilocus genotyping assay permitting simultaneous identification of 60 candidate markers for stroke in sickle cell anaemia (SCA). Based on cerebral magnetic resonance imaging (MRI), 69 patients were divided into stroke and control groups. The variant allele, CBS 278thr, showed protection from stroke, whereas the apoE3 allele showed a trend towards association with increased stroke risk. Several other variant alleles [TNFalpha (-308)A, CETP (-628)A, apoCIII (-641)A] showed a trend towards significant associations with stroke risk. These preliminary results on a small group of patients suggest that a multilocus genotyping assay may be valuable in identifying genes that increase the risk of stroke in SCA.
我们描述了一种新型多位点基因分型检测方法，可同时鉴定镰状细胞贫血（SCA）中60个中风候选标记物。基于脑磁共振成像（MRI），69例患者被分为中风组和对照组。变异等位基因CBS 278thr显示对中风有保护作用，而载脂蛋白E3等位基因显示出与中风风险增加相关的趋势。其他几个变异等位基因[TNFα（-308）A、CETP（-628）A、载脂蛋白CIII（-641）A]显示出与中风风险显著相关的趋势。这些对一小部分患者的初步结果表明，多位点基因分型检测方法可能有助于识别增加SCA中风风险的基因。
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