[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(4): 421-3, 2011 Aug.
Article
em Zh
| MEDLINE
| ID: mdl-21811984
ABSTRACT
OBJECTIVE:
To investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype.METHODS:
DNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin 10 (KRT10) gene. The PCR products were directly sequenced to detect the mutations.RESULTS:
A heterozygous 467G>A mutation was found in the patient, resulting in the substitution of arginine (R) by histidine (H) in codon 156 (R156H) in the 1A domain of the KRT10 protein but not in the healthy individuals from the family and the 50 unrelated individuals.CONCLUSION:
The mutation of 467G>A in exon 1 of KRT10 gene identified may play a major role in the pathogenic mechanism of this case of BCIE.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Hiperceratose Epidermolítica
/
Queratina-10
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Ano de publicação:
2011
Tipo de documento:
Article