中国人Wilson病ATP7B基因Thr935Met突变与临床表型的关系研究

Relation of ATP 7B gene Thr 935 Met mutation and clinical phenotype in Chinese with Wilson disease.

目的 探讨Wilson病 (Wilsondisease,WD)ATP7B基因突变的高频位点之一Thr 935Met与临床表现的关系。方法 应用PCR技术扩增 90例WD患者和 30例正常人ATP7B基因第 12外显子 ,其PCR产物行限制性内切酶TaiI酶切分析。结果 正常人组酶切未见异常。 90例WD组第 12外显子有 10例Thr 935Met杂合突变 ,未见纯合突变 ,检出率为 11 1%。突变组的平均发病年龄为 19 10岁± 8 5 2岁 ,无突变组的平均发病年龄为 14 0 0岁± 7 4 2岁 ,差异有显著意义 (P =0 0 4 7)。结论 Thr 935Met突变组患者的发病年龄迟于未见该点突变组的患者 ,而性别、首发症状及铜生化水平与该点突变无明显相关性。

Objective: To investigate the correlation between high frequency spot Thr 935Met of gene mutation, clinical manifestation in Chinese with Wilson disease. Methods: Exon 12 of ATP 7B of 90 WD patients and 30 controls were amplified by PCR and analysis was performed by restriction enzyme Tai I. Results: In WD group, 10 cases of heterozygous mutation of Thr 935Met of exon 12 were detected,no hmogenic mutation detected,the frequency of mutation 11 1%.No abnormality was founded in normal control group.conclusion: Onset age of WD patients with Thr 935Met mutation group(19 10±8 52 years old) are later than that without this mutation group(14 00±7 42 years old)(P=0 047), but this mutation show no significant relativity to patients'sex,first symptoms and metabolism of copper.