Objective: To explore the role of vrk1 gene in two Chinese pedigrees of the first and second branchial arch syndrome.
Method: Sixty members in 2 Chinese pedigrees were recruited. The exon 2 -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 syndrome.