[vrk1 gene mutation test in two Chinese pedigrees of the first and second branchial arch syndrome]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007 Nov;21(22):1026-8.
[Article in 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Branchial Region*
  • Exons
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Macrostomia / genetics
  • Male
  • Mutation*
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics*
  • Syndrome

Substances

  • Intracellular Signaling Peptides and Proteins
  • Protein Serine-Threonine Kinases
  • VRK1 protein, human