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
em Zh
| WPRIM
| ID: wpr-668312
Biblioteca responsável:
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.
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Índice:
WPRIM
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Idioma:
Zh
Revista:
Journal of Sun Yat-sen University(Medical Sciences)
Ano de publicação:
2017
Tipo de documento:
Article