【摘要】 目的研究我国肝豆状核变性(WD)患者MURR1基因的突变特征及其与WD患者临床表型的关系。方法根据MURR1基因全长3个外显子及其毗邻内含子序列,自行设计合成引物,聚合酶链反应(PCR)扩增61例经ATP7B基因诊断确诊的WD患者的MURR1基因序列,PCR产物纯化后直接测序检测MURR1基因突变和多态,并以60名健康人作为对照。结果1例患者在5’非翻译区检出较为罕见的-43T→C杂合新多态,因例数太少,无法分析基因型和临床表型的关系。27例患者检出2号内含子的IVS2+63C→C杂合多态,1例为纯合多态,频率为23．8％(29／122);60名健康对照中,26名检出此杂合多态,3名为纯合多态,频率为26．7％(32／120)。通过X2检验,IVS2 +63C→G在健康对照和WD患者中的频率基本相等(X2=0．269,P>0．1),表明这是一个群体多态。在MURR1基因编码区和剪接位置均未发现突变或多态。结论MURR1基因突变在我国WD患者中是罕见的,与我国WD患者的临床表型无相关性。更多还原

【Abstract】 Objective To study characteristic of MURR1 gene and genotype-phenotype correlation in Chinese patients with Wilson disease ( WD). Methods Using polymerase chain reaction and direct sequencing, mutations and polymorphisms of MURR1 gene were identified in 60 unrelated healthy controls and 61 unrelated WD patients diagnosed by mutation analysis of ATP7B. Results One patient carried heterozygous -43T→C change in 5’ untranslated region and none in healthy controls. 27 patients carried heterozygous IVS2 +63C→G and 1 carried homozygous IVS2 + 63C→G while 26 healthy controls carried heterozygous IVS2 + 63C→G and 3 carried homozygous IVS2 +63C→G. There is no statistically significance (X2 =0.269, P>0. 1) between healthy controls and WD patients, thus IVS2 +63C→G was a population polymorphism. No mutations were detected in coding area or splicing site. Conclusions MURR1 mutations are not common in Chinese WD patients. There is no correlation between MURR1 and WD in Chinese population.更多还原