Objective To make a early gene diagnosis and analyze the mutation characteristics of ATP7B gene by detecting the hot spots of ATP7B gene mutation in Chinese family patients with Wilson's disease. Methods The genomic DNA of the family members were extracted from peripheral blood. The fragments of exon 8,1243 of ATP7B gene were amplified by polymerase chain reaction and PCR products were sequenced bidirectionally. Then we analyzed the results with BLAST software online. Results I 1N I 2( proband) , II1 and II2 have heterozygote missense mutation Arg778Leu(2333G > T) and heterozy-gote nonsense mutation Leu770Leu (2310C>G) on exon 8. I 1 、 I 2, I 3 and II1 have heterozygote mis-sense mutation Lys952Arg(2855A >G) on exon 12. All the subjects have no mutations on exon 13. Conclusion Exon 8、12,13 of ATP7B gene should be detected in the members of a family with a proband having Wilson' s disease, which will help to diagnose pre-symptomatic patients and carriers earlier.%目的 通过检测中国人Wilson病(WD)P型铜转运三磷酸腺苷酶(ATP7B)基因突变热区,对成人WD一家系成员进行早期基因诊断和突变特征分析.方法 提取该家系成员外周血基因组DNA,采用聚合酶链反应扩增ATP7B基因第8、12、13号外显子,并对扩增产物进行直接双向测序,然后应用在线BLAST软件分析.结果 Ⅰ1、Ⅰ2(先证者)、Ⅱ1和Ⅱ2第8号外显子存在Arg778Leu(2333G＞ T)错义杂合突变,且均伴有Leu770Leu( 2310C＞G)同义杂合突变；Ⅰ1、Ⅰ 2、Ⅰ3和Ⅱ1第12号外显子存在Lys952Arg(2855A＞G)错义杂合突变；所有受检者第13号外显子均未存在突变.结论 对有先证者的Wilson病家系成员应进行ATP7B基因第8、12、13号外显子检测,有助于早期发现症状前患者和携带者.
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