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.
Asian Continental Ancestry Group ; genetics ; Branchial Region ; Exons ; Female ; Humans ; Intracellular Signaling Peptides and Proteins ; genetics ; Macrostomia ; genetics ; Male ; Mutation ; Pedigree ; Protein-Serine-Threonine Kinases ; genetics ; Syndrome