家族性摩擦性黑变病家系分析及突变位点检测

A case report of familial friction melanosis and the detection of RET gene mutation

目的:分析家族性摩擦性黑变病遗传特点,并探讨RET基因突变情况。方法:收集一摩擦性黑变病家系患者,分析其发病特点。提取患者的DNA,采用PCR方法扩增RET基因第11号外显子,并进行测序,限制性内切酶HaeⅢ进行鉴定。结果:家族性摩擦性黑变病呈常染色体显性遗传模式。在此家系中未见RET634基因突变。结论:家族性摩擦性黑变病与RET634基因突变无关。

Objective：To analyze the characteristics of familial friction melanosis and to detect the gene mutation of RET in this disease.Methods：A family of friction melanosis with four generations was collected.PCR and DNA direct sequencing were used to evaluate the mutation of 634RET gene in exon 11.Restrict enzymes degistion was also used to confirm the results.Results：Autosomal dominant mode of inheritance was confirmed .No mutation was found in exon 11 of RET gene in the family .Conclusion：There are no evidence to identify the correlation between this pedigree of familial friction melanosis and 634RET gene mutations.