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.

作　　者：杨斌[1] 胡纪原[1] 程楠[1] 杨广娥[1] 杨任民[1] 

机构地区：[1]安徽中医学院神经病学研究所,230031

出　　处：《中国优生与遗传杂志》2002年第4期12-13,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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.

关 键 词：中国人 WILSON病 突变 基因 表型 

分 类 号：R742.4[医药卫生—神经病学与精神病学]