中文摘要：

目的：探讨vrk1基因在2个第1、2腮弓综合征家系中的作用。方法：收集2个第1、2腮弓综合征家系6例（患者3例，表型正常者3例）的血样，抽提基因组DNA，然后对vrk1基因编码蛋白质的外显子2～13进行PCR扩增，测序分析PCR产物。结果：山东家系先证者vrk1基因的外显子6第156碱基出现A改变为G，经查询未发现编码的蛋白质改变，为单核苷酸多态位点（SNP），目前此SNP尚未有相关文献报道。北京家系未见SNP改变。结论：排除vrk1基因在2个第1、2腮弓综合征家系中的作用。

英文摘要：

Objective：To explore the role of vrkl gene in two Chinese pedigrees of the first and second branchial arch syndrome. Method：Sixty members in 2 Chinese pedigrees were recruited. The exon2--13 were analyzed by polymerase chain reaction and direct sequencing. Result：We found a new SNP in proband of Shandong pedigree. Conclusion：vrk1 gene mutation can be excluded in 2 Chinese pedigrees of the first and second branchial arch syn-drome.