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De novo missense mutations of c-kit gene in two sporadic patients with piebaldism
Author(s): 
Pages: 634-636
Year: Issue:  10
Journal: JOURNAL OF CLINICAL DERMATOLOGY

Keyword:  斑驳病基因c-kit突变基因;
Abstract: 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Taq Ⅰ酶及Sma Ⅰ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(de novo)突变,此突变是2例散发斑驳病患儿的主要病因.
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