Lai Yongxian, Zhao Zijun, Zhou Qian, Zhu Lude, Zhang Linglin, Zhang Guolong, Tang Yicheng, Wang Xiuli
Department of Surgery, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):366-370. doi: 10.3760/cma.j.issn.1003-9406.2018.03.013.
To screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.
Clinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.
Two missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.
Mutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.
在两个患有斑驳病的汉族家系中筛查KIT基因突变。
收集家系的临床资料。从家系成员及120名无亲缘关系的健康对照者采集的血液样本中提取基因组DNA。对KIT基因的所有编码外显子进行PCR扩增及直接测序。
在两个家系中分别鉴定出两个错义突变，即c.1861G>A（p.Ala621Thr）和c.1872G>A（p.Met624Ile）。在各自家系的健康成员及120名无亲缘关系的健康对照者中均未发现这两种突变。c.1872G>A是一个新突变。
KIT基因突变可能影响跨膜受体KIT的结构和功能，进而导致该病。
