目的 对1个不安腿综合征(RLS)家系进行RLS发病相关的基因及单核苷酸多态性检测以研究该家系的遗传学特征.方法 根据发病程度及发病人数进行筛选后,对一个3代共9例患病者的家系中的12人通过MassARRAY分子量阵列技术检测可能与RLS相关的20个SNPs位点,获得该家系成员不同基因相关位点基因分型,并进行单体型分析.结果 MassARRAY 分子量阵技术测序结果示:该家系 RLS 患者未携带rs9394492-C等位基因及rs1052553-G等位基因;该家系携带 rs12469063-G 、rs2300478-G等其他等位基因与该家系RLS患者无共分离.单体型分析提示该家庭4例RLS患者可能均携带相同的MEIS1基因及MAP2K5基因单体型.结论 MEIS1基因及MAP2K5基因可能与该RLS家系发病有关.%Objective To investigate the genetic characteristics of a single pedigree with restless legs syndrome (RLS) .Methods According to the severity of disease and the number of cases ,12 samples of the pedigree including 9 patients with RLS were tested for 20 SNPs related to RLS by MassARRAY molecular weight array technology. Haplotype analysis was performed.Results This pedigree did not carry the allele C of rs9394492 or the allele G of rs1052553. The rest SNPs did not co-segregate with RLS in the pedigree , which suggested that these variants are not causative mutations. In the haplotypes analysis , two haplotypes , one in MEI1 and the other in MAP2K5 might segregate with RLS in the family.Conclusions MEI1 and MAP2K5 may confer risk of RLS in the pedigree.
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