遗传性对称性色素异常症一家系ADAR1基因突变检测

Detection of ADAR1 gene in a pedigree with dyschromatosis symmetrica hereditaria

目的:检测1例中国汉族遗传性对称性色素异常症家系ADAR1基因突变情况。方法:收集该家系内的2例患者及2名表型正常者的临床资料和血样,提取外周血基因组DNA,PCR扩增后进行DNA测序。结果:该家系2例患者均存在ADAR1基因第13号外显子c.3232C>T突变(p.R1078C),而在该家系内表型正常的个体以及100名正常对照中均未发现该突变。结论:该DSH家系内ADAR1基因c.3232C>T突变可能与DSH发病有关。

Objective： To detect the mutation of ADAR1 gene in a Chinese Han family with dyschromatosis symmetrica hereditaria（ DSH）. Methods： Clinical data and blood samples of the family with DSH were collected. DNA was extracted from the blood samples of two patients with DSH,two unaffected family members and 100 unrelated healthy controls. All the exons of ADAR1 gene were amplified by PCR and the product was purified and directly sequenced. Results： A missense mutation of c. 3232C 〉T（ p. R1078C） in the ADAR1 protein was found in two patients,which was not detected in the unaffected family members and healthy controls. Conclusion： A missense mutation of c.3232C〉T in the ADAR1 gene may result in the disease of DSH in this family.