摘要
目的 对两个遗传性对称性色素沉着症(dyschromatosis symmetrica hereditaria,DSH)家系进行基因变异分析.方法 应用PCR扩增结合Sanger测序的方法,分别对两个DSH家系中先证者ADAR基因的15个外显子进行基因突变分析,确定疑似致病变异后,对两家系中的其他患病人员进行了相应位点的基因检测.并以200名无关正常人样本作为对照.结果 Sanger测序结果显示家系1先证者及患者(先证者弟弟、先证者儿子、先证者侄女)存在ADAR基因第2外显子c.1325C>G (p.Ser442Ter)杂合变异.家系2先证者及先证者儿子存在ADAR基因第2外显子c.1498C>T(p.Gln500Ter)杂合变异.两种突变均为未报到过的新变异,200名健康对照均未发现相应突变.结论 ADAR基因c.1325C>G(p.Ser442Ter)和c.1498C>T(p.Gln500Ter)变异为这两个家系患者的疑似致病变异.该结果丰富了ADAR基因突变谱,为进一步探索DSH基因型与临床表型之间的相关性和基因治疗奠定了基础.
Objective To detect mutations of ADAR gene in two pedigrees affected with dyschromatosis symmetrica hereditaria(DSH).Methods Potential mutations of the ADAR gene were analyzed by Sanger sequencing of the probands from both pedigrees.Suspected mutations were validated by Sanger sequencing of other patients from both pedigrees as well as unrelated healthy individuals.Results A heterozygous nonsense mutation c.1325C>G(p.Ser442Ter)and a novel nonsense mutation c.1498C>T(p.Gln500Ter)were respectively identified in the ADAR gene among all patients from the two pedigrees but not among 200 healthy individuals.Conclusion Mutations of the ADAR gene probably underlie the DSH in the two pedigrees.Above findings have enriched the spectrum of ADAR gene mutation.
作者
赵振华
王聪慧
孔祥东
Zhao Zhenhua;Wang Conghui;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第6期574-576,共3页
Chinese Journal of Medical Genetics
