【摘要】 目的研究1个斑驳病家系的基因突变情况。方法经组织病理、电镜检查结合典型的临床特征确立斑驳病的诊断。采用聚合酶链反应及DNA直接测序的方法对此家系进行基因突变检测。结果家系中先证者存在KIT基因第2528位G→A(或C→T),使密码子AGT>AAT,导致S850N。100名健康对照组不存在此突变。结论S850N可能是引起该家系临床表型的原因。更多还原

【Abstract】 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 sequening. 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.更多还原