摘要
目的探讨家族性良性天疱疮17个先证者的ATP2C1基因突变。方法采用PCR和DNA直接测序的方法,检测17个家族性良性天疱疮先证者的ATP2C1基因外显子区。结果在9个先证者中检测到8个不同的ATP2C1基因突变位点,包括3个缺失突变(nt1464-1487/1462-1485del,1523delAT和2375delTFGT),3个剪接位点突变(360-2A→G,1415-2A→T和2243+2T→C)及2个错义突变(P307L和D648Y)。120例正常人对照中均未检测到上述几种突变。结论此8个ATP2C1基因突变是该病新的特异突变。
Objective To detect the mutations of ATP2C1 gene in patients with Hailey-Hailey disease （ HHD ）. Methods PCR and direct sequencing were performed in 17 patients and 120 healthy controls to screen the mutations in the exons of ATP2C1 gene. Results Eight mutations were identified in nine probands, including three deletion mutations （nt1464-1487 del / nt1462-1485del, 1523delAT, 2375delTTGT）, three splice site mutations （360 -2 A→G, 1415 -2 A→T, 2243 ＋2 T→C） and two missence mutations （ C920T and G1942T ）. None of the above mutations was found in the controls. Conclusion Eight specific novel mutations were identified in nine probands of HHD, which could be causative factors of the disease.
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2006年第6期308-310,共3页
Chinese Journal of Dermatology
基金
山东省科技攻关计划基金(031050116)
