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首页> 外文期刊>Annals of Human Genetics >Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease
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Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease

机译：瑞典1型von Willebrand病患者的VWF基因变异

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摘要

The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter haplotype was significantly associated with disease. In 11 patients (20%), more than one mutation or candidate mutation was detected. The allelic identity for the putative disease-causing mutations was approximately 0.1, compatible with an overall disease frequency of 1%. VWF sequences for exon 28 from eight monkey species were compared with the variable positions found in our patients. Positions classified as mutations were overrepresented among sites that were fixed in all eight monkey species. No general increase of the mutation rate was found for the pseudogene region.
机译：研究了瑞典1型von Willebrand病（VWD）人群中von Willebrand因子（VWF）基因的突变谱。为了获得有关VWD突变动态的更多知识，从群体遗传学角度分析了数据。在54位被诊断患有1型VWD的瑞典患者中对VWF基因进行了重新测序。在外显子中有55个可变位点，在启动子中有10个，在内含子中有38个。突变的谱图类似于欧洲的一项研究，但包括10个新的候选突变。同义位点沿编码序列均匀分布，而非同义位点位于三个簇中。总体而言，有44％的患者没有突变或候选突变，并且没有启动子单倍型与疾病显着相关。在11名患者（占20％）中，检测到一个以上的突变或候选突变。推定的致病突变的等位基因身份大约为0.1，与总疾病发生频率1％兼容。将来自八个猴子物种的第28外显子的VWF序列与我们患者中发现的可变位置进行了比较。在所有八种猴子物种中固定的位点中，分类为突变的位置过分代表。没有发现假基因区域的突变率普遍增加。

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