Vorechovsky I, Kralovicova J, Tchilian E, Masterman T, Zhang Z, Ferry B, Misbah S, Chapel H, Webster D, Hellgren D, Anvret M, Hillert J, Hammarstrom L, Beverley P C
University College London Royal Free Campus, UK.
Nat Genet. 2001 Sep;29(1):22-3. doi: 10.1038/ng723.
A 77G allele of the gene encoding CD45, also known as the protein tyrosine phosphatase receptor-type C gene (PTPRC), has been associated with multiple sclerosis (MS). Here we determine allele frequencies in large numbers of MS patients, primary immunodeficiencies linked to major histocompatibility complex (MHC) locus and over 1,000 controls to assess whether aberrant splicing of PTPRC caused by the 77C-->G polymorphism results in increased susceptibility to these diseases. Our results show no difference in the frequency of the 77G allele in patients and controls and thus do not support a causative role for the polymorphism in the development of disorders with a strong autoimmune component in etiology.
编码CD45的基因(也称为蛋白酪氨酸磷酸酶受体C型基因,PTPRC)的77G等位基因已被发现与多发性硬化症(MS)相关。在此,我们测定了大量MS患者、与主要组织相容性复合体(MHC)位点相关的原发性免疫缺陷患者以及1000多名对照者的等位基因频率,以评估由77C→G多态性导致的PTPRC异常剪接是否会增加对这些疾病的易感性。我们的结果显示,患者和对照者中77G等位基因的频率没有差异,因此不支持该多态性在病因中具有强烈自身免疫成分的疾病发展中起致病作用。