斑驳病c-kit基因突变检测

目的：检测2例散发斑驳病患儿及其父母c-kit基因的突变情况。方法：收集2例斑驳病患儿及其父母的临床资料，提取其外周血DNA，采用PCR扩增c-kit基因编码区的全部外显子，DNA直接测序，明确突变位点。针对所发现的突变位点以TaqⅠ酶及SmaⅠ酶进行限制性内切酶检测。结果：2例患儿c-kit基因分别于第1862位C→A及第1784位T→C，使密码子GCT→GAT和CTG→CCG，导致Ala621Asp及Leu595Pro突变。2例患儿父母以及50名健康对照者不存在此两种基因突变。结论：Ala621Asp及Leu595Pro均为新生（denovo）突变，此突变是2例散发斑驳病患儿的主要病因。

De novo missense mutations of c-kit gene in two sporadic patients with piebaldism

Objective: To determine c-kit gene mutations in two sporadic Chinese patients with piebaldism. Methods: Twenty-one coding exons of the c-kit gene were amplified by PCR and followed by DNA sequencing. Detected mutations were further confirmed by restriction enzyme digestion. Results: C1862A and T1784C point mutations in the c-kit gene were found in the two patients with piebaldism, which changed GCT to GAT mutation at codon 621 and CTG to CCG at codon 595, respectively. The mutations resulted in Ala621Asp and Leu595Pro substitution in c-kit gene. No mutation was found in their parents and 50 normal control individuals. Conclusion: Ala621Asp and Leu595Pro mutations of c-kit gene are the causes of the piebaldism in these two Chinese sporadic patients.