Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2005
[A novel KIT gene mutation from a family with piebaldism in the southern part of China].
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Deng Wei-ping, Huang Yue-shen, Lu Chun, Lan Wei, Zhu Guo-xing, Lin Qun-di, Feng Pei-ying
Аннотация
OBJECTIVE: To detect the gene mutation of a family with piebaldism.
METHODS: Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.
RESULTS: G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.
CONCLUSION: The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.
METHODS: Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.
RESULTS: G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.
CONCLUSION: The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.