Detection of KIT gene of a case with serious phenotypes of piebaldism / 中山大学学报(医学科学版)
Journal of Sun Yat-sen University(Medical Sciences)
; (6): 949-954, 2017.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-668312
Responsible library:
WPRO
ABSTRACT
[Objective]To investigate the mutations of KIT gene and SLUG(SNAI2)gene in one patients with piebaldism in Chi?na.[Methods]All coding exons and exon-intron boundaries of KIT gene and SLUG gene were amplified by PCR. The PCR products were sequenced. The DNA samples from 50 normal subjects were also sequenced for control.[Results]The novel mutation,c.860T>A (p.V287E),was detected in patient. This mutation was absent in his parents and the controls ,indicating a de novo mutation. The de?tection result of all coding exons and exon-intron boundaries of SLUG gene was normal.This p.V287E mutation was located in the ex?tracellular ligand-bindingdomain(ectodomain)of KIT,which may generate clash with E249 and disrupt the conformation ofβD andβD/βE of D3 that required for SCF(stem cell factor)binding.[Conclusion]We have identified a novel mutation of KIT gene,c.860T>A(p.V287E),which is probably associated with serious phenotypes of piebaldism.
Full text:
Available
Database:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Prognostic study
Language:
Chinese
Journal:
Journal of Sun Yat-sen University(Medical Sciences)
Year:
2017
Document type:
Article