应用分子遗传学方法进行Wilson病的症状前诊断

目的 采用分子遗传学的方法，为Wilson病（WD）家系中症状前期WD患者明确诊断。方法 采用与Wilson病致病基因紧密连锁的遗传标记。构建染色体单体型。分析先证者与待诊者的异同；检测待诊者是否存在与先证者相同的致病突变，寻找症状前期患者。结果 在10个WD家系中找到了2例症状前期的WD患者其中一例为仅1个月的婴儿；同时为一例血清铜蓝蛋白低于正常的携带者明确了诊断。结论 采用染色体单体型分析结合突变检测的方法，能为WD家系中症状前期病人明确诊断，使之得到及时的治疗。

Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis

Objective To establish the molecular genetic assay for presymptometical diagnosis of Wilson disease(WD). Methods Chromosome haplotype of WD was constructed using three genetic markers.Disease-causing mutations of Wilson disease gene(WND) were examined among the WD probands and their sib by PCR-SSCP and DNA sequencing analysis in WD pedigrees, to expound whether the disease causing mutations of WD patients gene was simila to that of their probands.Results Two presymptomatical WD patients were diagnosed correctly in ten WD pedigrees, including one newborn girl. One carrier ,who has a lower serum ceruloplasmin(sCP) level,was discovered. Conclusions Presymptomatical WD diagnosis can be made by haplotype analysis and mutation examination.So that, WD patients can be properly treated in their early stage.