Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis

Ping Zhang,Xiaoliu Shi,Qihe Ling,Bin Ni,Zhaochu Yin

Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis

2002

Ping Zhang
Xiaoliu Shi
Qihe Ling
Bin Ni
Zhaochu Yin

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.

Keywords:

Bioinformatics
Molecular genetics
Medicine
Disease

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