Deng Wei-ping, Lu Chun, Zhu Guo-xing, Lin Qun-di, Feng Pei-ying
Department of Dermatology, Guangdong Provincial People's HospitalìGuangzhou, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):545-7.
To detect gene mutation in proband and his mother from a family with piebaldism.
Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.
G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.
The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.
检测一例斑驳病患者及其母亲的基因突变情况。
通过病理、超微结构检查及典型临床表现对一名斑驳病患者进行诊断确认。采用聚合酶链反应（PCR）及DNA测序检测一个斑驳病家族的基因突变情况。
在该斑驳病家族的先证者中发现KIT基因发生了G1833A转换。此突变导致KIT基因发生V604I替换。在100名正常个体及其他家庭成员中未发现该突变。
V604I突变是该斑驳病家族临床表型的致病原因。
