摘要
目的: 检测毛囊角化病一家系中ATP2A2基因新的剪接突变。方法: 提取家系中2例患者和2名正常人外周血DNA,采取聚合酶链反应技术对ATP2A2基因进行扩增,并对其产物进行测序,以100名正常人作对照。结果:该家系中患者ATP2A2基因的第13号内含子第1761+2位碱基由胸腺嘧啶(T)转化为胞嘧啶(C)。结论: 该家系发病可能是由ATP2A2基因发生剪接突变所致。
Objective： To identify the mutation of ATPT2A2 gene in a pedigree with Darier＇s disease （DD）. MeThods： Mutation scanning was carried out by PCR and direct sequencing in a pedigree of Dafter＇ s disease and 100 normal controls. Results： A splicing mutation of c. 1761 ＋ 2 was found in the patients, but not in normal individuals. Conclusion： DD in this family is caused by splicing mutation of c. 1761 ＋ 2 in the ATP2A2 gene.
出处
《中国麻风皮肤病杂志》
2010年第11期762-764,共3页
China Journal of Leprosy and Skin Diseases
