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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。
Objective To investigate the mutation of MURR1 gene in patients with hepatolenticular degeneration (WD) and its relationship with clinical phenotype in WD patients. Methods Based on the three exons of MURR1 gene and their adjacent introns, MURR1 gene was amplified by polymerase chain reaction (PCR) in 61 WD patients diagnosed by ATP7B gene. The PCR products After purification, MURR1 gene mutation and polymorphism were detected by direct sequencing, and 60 healthy people were used as control. Results A rare case of -43T → C heterozygous polymorphism was detected in the 5 ’untranslated region. Because of the small number of cases, the relationship between genotype and clinical phenotype could not be analyzed. 27 cases of IVS2 + 63C → C heterozygous polymorphism detected in intron 2, 1 case of homozygous polymorphism, the frequency was 23.8% (29/122); 60 healthy controls, 26 were seized Out of this heterozygous polymorphism, 3 homozygous polymorphism, the frequency was 26.7% (32/120). By X2 test, the frequency of IVS2 + 63C → G in healthy controls and WD patients was almost equal (X2 = 0.269, P> 0.1), indicating that this is a population polymorphism. No mutations or polymorphisms were found in the MURR1 gene coding and splice sites. Conclusion MURR1 gene mutation is rare in WD patients in our country and has no correlation with the clinical phenotype of WD in our country.