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Preliminary Results in a Study Regarding the Relationship Between Perlecan Gene Polymorphism and Spinal Muscular Atrophy Type I Disease

机译:在研究有关的初步结果Perlecan基因多态性之间的关系和I型脊髓性肌萎缩症疾病

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Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by weakness and atrophy of proximal muscles. Despite the fact that the disease transmission suggests an autosomal recessive trait, the wide spectrum of clinical manifestations indicates that other genes may contribute to the SMA phenotype. To identify possible modifier genes, the aim of our study was to investigate the relationship between BamHl perlecan gene polymorphism and SMA type I, the classical severe form of the disease. We genotyped 40 patients with SMA type I disease and 50 subjects without personal or heredo-colateral neuromuscular problems, using the polymerase chain reaction-restriction fragment length polymorphism method. After statistical analysis of the observed genotypes, a significant difference (p = 0.03) could be observed regarding the incidence of TT genotype and T allele in boys with SMA type I compared with affected girls. However, this result cannot be assessed because of the small and unequal number of subjects. We concluded that there might be no association between perlecan gene polymorphism and SMA type I disease.
机译:脊髓性肌萎缩(SMA)是一种神经肌肉疾病的特征是软弱和萎缩近端肌肉。疾病传播表明一个常染色体隐性特征,临床的广泛表现表明,其他基因SMA表型。可能的基因修饰符,我们研究的目的调查BamHl之间的关系perlecan基因多态性和SMA I型经典的严重形式的疾病。40 SMA I型患者疾病和基因分型没有个人或heredo-colateral 50主题神经肌肉的问题,利用聚合酶链reaction-restriction片段长度多态方法。观察到的基因型,意义重大差异(p = 0.03)可以观察有关TT基因型的发生率和T等位基因的男孩与SMA类型我与女孩的影响。然而,这不能评估结果小和不平等的主题。得出的结论是,可能没有关联perlecan基因多态性和SMA I型之间疾病。

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