kit基因c.2472＋1G＞A突变在一个中国家系导致斑驳病  

A novel mutation of c.2472 ＋ 1G 〉 A in kit gene causes piebaldism in a Chinese family

作　　者：全意[1] 廖希[1] 梁德生[1] 邬玲仟[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《中华皮肤科杂志》2010年第6期399-401,共3页Chinese Journal of Dermatology

基　　金：十一五国家科技支撑计划课题（2006BAI05A08）

摘　　要：目的 对一斑驳病家系行分子遗传学分析,明确该家系的致病突变.方法 运用PCR、逆转录PCR和DNA测序对家系成员kit基因进行基因检测.结果 先证者的kit基因存在c.2472＋1G〉A的杂合突变,该突变使第17号外显子3＇端剪接位点丢失,导致kit基因所编码的mRNA第17号外显子缺失,家系中其他患者均存在相同突变,家系中正常个体中没有此突变.结论 kit基因的c.2472＋1G〉A杂合突变是导致家系成员发生斑驳病的致病突变.Objective To make a molecular genetic analysis in a Chinese family with piebaldism,in order to find the causative mutation of this disease.Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family.Ploymerase chain reaction （PCR）,reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene.Results A novel heterozygous mutation c.2472＋1G〉A in kit gene.which leads to the loss of 3＇ splicing site in exon 17 followed by the absence of exon 17,was found in all affected members,but not in an unaffected member in the family.Conclusion The novel mutation c.2472＋1G〉A may be associated with piebaldism initiation in this family.

关 键 词：斑驳病 基因 kit 突变 剪接位点 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]