Detection on KIT Gene Mutation of Patients with Piebaldism
CHEN Yan-yan
CHEN Shao-feng
HUANG Yan-jun
Abstract：To study KIT gene mutation in patients with piebaldism.Methods:Two pedigrees were surveyed, including one family of total 10 family members, of which 4 were mottled patients, and the other family of total 8 family members, of which 3 were mottled patients.KIT gene was cloned by PCR and sequenced.The 100 individuals undergoing health check-up in the same time period were selected to conduct a comparative analysis.Results:7 patients presented leukoplakia and white hairs.The number of white spots increased with age, with a shape of trian-gles or rhombus at the beginning and gradually merged into a large patch.White spots distributed first from the forehead, then gradually spread to the limbs, joints and the torso, occupied more than 60%of the total surface area.7 patients exibited the same mutations, i.e., in the 12th exon of KIT gene , the 1 861st base guanin (G) was mutated into adenine (A), leading to the 621st a-mino acids residual from valine into threonine, while the healthy individuals from these two fami-lies and the controls did not exibit the mutations.All 21 exons were amplified successfully, and no mutation was not found in other exons.Conclusion:KIT gene mutation was found in the patients with piebaldism.
Keywords：PiebaldismKIT geneGene mutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 189-191 )