[vrk1 gene mutation test in two Chinese pedigrees of the first and second branchial arch syndrome].
OBJECTIVE
To explore the role of vrk1 gene in two Chinese pedigrees of the first and second branchial arch syndrome.


METHODS
Sixty members in 2 Chinese pedigrees were recruited. The exon 2 -13 were analyzed by polymerase chain reaction and direct sequencing.


RESULTS
We found a new SNP in proband of Shandong pedigree.


CONCLUSIONS
vrk1 gene mutation can be excluded in 2 Chinese pedigrees of the first and second branchial arch syndrome.
Pan
Bo
B
The Center of External Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100041, China.
Lin
Lin
L
Jiang
Haiyue
H
Cai
Zhen
Z
Yu
Dashan
D
Zhuang
Hongxing
H
D044466:Asian People / Q000235:genetics; D001934:Branchial Region; D005091:Exons; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008265:Macrostomia / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D017346:Protein Serine-Threonine Kinases; C109890:VRK1 protein, human