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目的对Wilson病(WD)患者ATP7B基因外显子进行PCR扩增测序,研究其突变的特点。方法对41例患者(WD组)、10例健康者(对照组)以及1个WD家系(先证者女儿及其父母3人)提取基因组DNA,PCR扩增外显子相关片段,并对扩增产物进行直接测序。结果健康对照组未见异常,WD组发现11例患者存在外显子8点突变,其中6例患者呈Arg778Leu的复合杂合突变;4例患者存在外显子12点突变,其中2例存在Arg952Lys突变。在Wilson病家系中,先证者女儿携带2种杂合性突变,分别是父源的外显子8中Arg778Leu杂合性突变和母源的外显子13中Pro992Leu杂合性突变,其父母均为表型正常的杂合子携带者。结论中国人WD患者中ATP7B基因外显子8、12为突变的热点区,但也存在其他外显子的突变,如外显子13。
Objective To detect the exon of ATP7B gene in patients with Wilson disease (WD) by PCR. Methods Genomic DNA was extracted from 41 patients (WD group), 10 healthy subjects (control group) and one WD family (proband daughter and their parents), and PCR amplification of exon-related fragments Increased product for direct sequencing. Results There were no abnormalities in the healthy control group. There were 8 exon mutations in 11 patients in the WD group, of which 6 were heterozygous mutation of Arg778Leu. Exon 12 mutations were found in 4 patients, of which Arg952Lys mutation. In Wilson’s pedigree, the proband’s daughter carries two heterozygous mutations, namely the Arg778Leu heterozygous mutation in the paternal exon 8 and the Pro992Leu heterozygous mutation in the maternal exon 13, respectively, whose parents All phenotypic normal heterozygous carriers. Conclusions Exon 8 and 12 of ATP7B gene in Chinese patients with WD are hot spots of mutation, but there are other exon mutations such as exon 13.