vrk1 gene mutation test in two Chinese pedigrees of the first and second branchial arch syndrome.
- Author:
Bo PAN
1
;
Lin LIN
;
Haiyue JIANG
;
Zhen CAI
;
Dashan YU
;
Hongxing ZHUANG
Author Information
1. The Center of External Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100041, China.
- Publication Type:Journal Article
- MeSH:
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
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2007;21(22):1026-1028
- CountryChina
- Language:Chinese
-
Abstract:
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.
