A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract / 华中科技大学学报(医学)(英德文版)
Journal of Huazhong University of Science and Technology (Medical Sciences)
;
(6): 316-318, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-331067
ABSTRACT
This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fatores de Transcrição
/
Catarata
/
Polimorfismo de Fragmento de Restrição
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Química
/
China
/
Reação em Cadeia da Polimerase
/
Sequência de Aminoácidos
Tipo de estudo:
Estudo prognóstico
Limite:
Animais
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Huazhong University of Science and Technology (Medical Sciences)
Ano de publicação:
2015
Tipo de documento:
Artigo
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