一对称性色素异常症家系ADAR基因突变分析及产前诊断

 目的:通过对一中国汉族对称性色素异常症(DSH)家系行ADAR基因突变检测，分析其致病性及诊断胎儿是否为DSH患者。方法：收集家系成员的临床资料和血样，应用高通量测序方法进行测序分析，应用聚合酶链反应(PCR)扩增结合Sanger测序对ADAR基因所有编码区进行测序，分别检测家系中2例患者(先证者及其父亲)、1例胎儿和8例正常人的突变情况。结果：该家系中2例患者及胎儿均携带ADAR基因c.613C>T(p.Q205X)位点杂合变异，另外8例未患病的家系成员均未发现上述突变。结论：ADAR 基因c.613C>T(p.Q205X)为引起该家系发生DSH的突变位点，而不是单核苷酸多态性(SNP)。该结果拓展了ADAR基因突变谱，为遗传性对称性色素异常症基因诊断和产前诊断提供参考和帮助。

Prenatal diagnosis and gene mutation analysis of ADAR gene in a pedigree affected with dyschromatosis symmetrica hereditaria

Objective：To qualitatively analyze the mutation of ADAR gene in amniotic fluid, and diagnose whether the fetus was a patient with DSH.  Methods: Clinical data and peripheral blood samples of the patients from the pedigree were collected, and potential mutations of the ADAR gene were screened for 2 patients (the proband and his father),1 fetus and 8 unaffected individuals from the pedigree by PCR amplification and Sanger sequencin．Results: c.613C>T (p.Q205X) heterozygous mutation of the ADAR gene was identified in the 2 patients and the fetus，which was absent in the 8 unaffected individual．Conclusion: The c.613C>T(p.Q205X) mutation of ADAR gene may predict the disease in this pedigree. The result could extend the mutational spectrum of ADAR gene, and provide an evidence for gene mutation analysis and prenatal diagnosis of dyschromatosis symmetrica hereditaria.