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目的 :研究中国人Waardenburg综合征Ⅱ型MITF突变基因特点 ,从分子水平对Waardenburg综合征进行鉴别诊断 ,深化Waardenburg氏综合征的分子病理。方法 :利用SSCP分析PAX3及MITF所有外显子的PCR扩增产物。结果 :1个家系 9人份血样中PAX3均正常 ,而先证者MITF基因第 7号外显子DNA双链整段缺失。结论 :该项研究表明尚属首次报道的MITF基因外显子 7上的缺失突变 ,丰富了Waardenburg氏综合征的病因学内容 ,为该病的病因学研究和临床研究提供了有用的资料。
OBJECTIVE: To study the characteristics of the MITF mutation in Waardenburg syndrome type Ⅱ in China, to differentiate Waardenburg syndrome from molecular level and to deepen the molecular pathology of Waardenburg’s syndrome. Methods: PCR amplification products of all exons of PAX3 and MITF were analyzed by SSCP. Results: PAX3 was normal in 9 pedigrees of one pedigree, while the exon 7 of exon 7 of MITF gene in the proband was deleted in the entire DNA double strand. CONCLUSIONS: This study shows that the deletion mutation in exon 7 of MITF gene, which is the first reported report, enriches the etiology of Waardenburg’s syndrome and provides useful information for the etiology and clinical studies of this disease.