ATP7B基因突变与肝豆状核变性发病关系的探讨

Research for the relationship of ATP7B gene mutations and WD

目的对中国人肝豆状核变性(WD)患者ATP7B全基因测序,分析其突变及与WD的关系,并探讨ATP7B基因复合突变在WD发病中的意义。方法对临床确诊的WD患者84例及20例健康者采集口腔黏膜细胞,提取基因组DNA为模板,应用聚合酶链反应对ATP7B全部外显子5'端→3'端扩增;运用DNA直接测序法检测突变,并分析ATP7B基因突变临床意义及与预后的关系。结果在84例患者中,ATP7B基因突变率为82.14%,还发现一些国内较少报道的ATP7B基因复合突变,可能与WD相关。结论ATP7B基因突变有较大的异质性,对该基因突变的检测,能发现有相关ATP7B基因突变的WD患者。

Objective To sequence the WD ATP7B gene, analyze the relationship of the mutations and WD, find in Chinese WD patients the ATP7B gene complicated mutation meaning. Method Geting genomic DNA from clini- cally diagnosed 84 cases of WD patients and 20 cases of the health people, amplifying all exons 5 ＇end → ＋ 3＇ end of ATP7B gene by PCR. PCR products and mutations were analyzed by DNA direct sequencing and analyzing the clinical meaning and the relationship with the mutations. Results We found in the 84 cases the ATP7 B gene mutation rate was 82. 14% and found some complicated mutations that were rarely reported in China and had relatioship with WD. Conclusion ATPTB gene mutations have the heterogenecity and the mutation checking can find related ATP7B gene mutation carried WD patients.