目的 探讨我国各地HSP家系先证者及成员的基本情况,并定位新的HSP致病基因以便于为我国HSP基因诊断平台的建立提供依据.方法 收集我国遗传病资源管理中心的80例HSP家系先证者和成员为研究对象,抽取静脉抗凝血液实施基因提取并进行研究.结果 HSP患者中男性比例较高,单纯型HSP患者比例较高,首发症状中以下肢肌张力升高所占比例最高,为100%,差异均有统计学意义(均P < 0.05).单纯型HSP患者的基因SPG4、SPG3A突变频率明显高于复杂型,SPG6突变频率明显低于复杂型,差异均有统计学意义(均P < 0.05).对患者致病基因相关单核苷酸多态性(SNP)位点LOD值比较,结果输入UCSC数据库进行分析,结果显示相应区间属于19号染色体,位于着丝点附近.结论 SPG4、SPG3A在临床诊断单纯型HSP患者具有较好的指示作用,SPG6在诊断复杂型HSP患者时具有较好的指示作用;新的HSP致病基因亚型在19号染色体着丝粒附近的P12-Q12区域.%Objective To investigate the basic situation of the proband and members of the HSP family all over our country, and to position the new HSP genes that cause the disease to provide data for facilitating the establishment of the HSP genetic diagnostic platform. Methods 80 cases of proband and members of HSP family were collected from genetic disease resources management center, the genes were extracted and studied from intravenous anticoagulant blood. Results Percentage of male HSP patients was found higher, percentage of simple HSP was found higher, the highest percentage of the initial symptom was the increasing tension of lower limb muscle, the differences were all statistically significant (all P < 0.05). Mutation frequencies of SPG4 and SPG3A gene in simple type genes of patients with HSP were found higher than those in complicated type, mutation frequency of SPG6 gene in simple type gene of patients with HSP was found higher than that in complicated type, the differences were all statistically significant (all P < 0.05). LOD values of related SNP points were compared in pathogenic patients, the results were entered the UCSC database for analysis, the corresponding interval was found belonged to chromosome 19 according to the results, and located near the centromere. Conclusion SPG4 and SPG3A have a better indicating effect in clinical diagnosing in simple HSP patients, SPG6 has a better indicating effect in the diagnosis of patients with complicated HSP; new HSP of subtype locate in P12-Q12 region around the centromere of chromosome 19.
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