PCR-SSCP技术检测中国人肝豆状核变性基因第18、14外显子突变

Identification of exon 18 and exon 14 mutation of WD gene with PCR-SSCP

目的了解中国人肝豆状核变性(WD)患者基因第18、第14外显子的突变情况,为掌握该病的突变特点并进行基因诊断提供依据。方法聚合酶链反应-单链构象多态性(PCR-SSCP)检测中国人WD基因第18、14外显子突变,并对异常带型进行直接DNA测序。结果45例患者和20例正常人的18外显子PCR-SSCP出现两种泳动带型,异常带型测序证实无突变存在。14号外显子PCR-SSCP出现的带型均一致,结论14外显子和18外显子可能不是中国人WD基因突变的热区。

[Objective] To investigate the mutations of WD gene in exon 18 and exon 14, and provide information for gcne diagnoses. [Methods] Use PCR-SSCP technique to find the abnormity, the abnormity was sequenced. [Results] One case was found abnormal band in exon 18 of 45 patients and 20 normal controls, but no gene mutation was found, [Conclusions] The results suggest that exon 18 and exon 14 may not be frequent mutation points in Chinese Wilson disease.