Waardenburg综合征的遗传学分析

Genetic Analysis of Waardenburg Syndrome

目的 通过两家系中 2例典型的Waardenburg综合征 (WS)病例 ,分析其细胞遗传学改变 ,探讨该病在中国家系中的遗传异质性。方法 应用问卷调查方法绘制系谱图分析其遗传方式 ,采集家系部分成员的外周静脉血进行染色体核型分析。结果 在第一家系发现先证者及其父亲、祖父存在第 9号染色单体臂间倒位现象 ,而第二家系的染色体核型未见异常。结论 该综合征在中国家系中表现出明显的遗传异质性 ,尤其是在其中的一个家系中发现的染色体核型新的异常 。

Objective To analyse the genetic characteristic and investigate the heterogeneity with two typical cases of Waardenburg Syndrome (WS) in Chinese pedigrees. Methods Genetic investigation and genetic pattern analysis were performed on the pedigrees. Blood samples of partial family members were collected after informed consent in order to detect the karyotype. Results A inter-arm inversion in the ninth chromosome was found in three individuals (the proband, his father and his grandfather) of the first pedigree. In the second pedigree, this kind of karyotype was not found.Conclusion Heterogeneity existed in the Chinese pedigrees. A new karyotype abnormality was found in the first pedigree. The result suggested that a new disease gene may contribute to the Chinese Waardenburg Syndrome case.