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)
J. huazhong univ. sci. tech. med. sci
; (6): 316-318, 2015.
Article
de En
| WPRIM
| ID: wpr-331067
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Facteurs de transcription
/
Cataracte
/
Polymorphisme de restriction
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Chimie
/
Chine
/
Réaction de polymérisation en chaîne
/
Séquence d'acides aminés
Type d'étude:
Prognostic_studies
Limites du sujet:
Animals
/
Female
/
Humans
/
Male
Pays comme sujet:
Asia
langue:
En
Texte intégral:
J. huazhong univ. sci. tech. med. sci
Année:
2015
Type:
Article