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1.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 316-8, 2015.
Artículo en Inglés | WPRIM | ID: wpr-637115

RESUMEN

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.

2.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 316-318, 2015.
Artículo en Inglés | WPRIM | ID: wpr-331067

RESUMEN

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.


Asunto(s)
Animales , Femenino , Humanos , Masculino , Secuencia de Aminoácidos , Secuencia de Bases , Catarata , Genética , China , Cartilla de ADN , Proteínas de Unión al ADN , Química , Genética , Genes Dominantes , Factores de Transcripción del Choque Térmico , Datos de Secuencia Molecular , Mutación , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Homología de Secuencia de Aminoácido , Factores de Transcripción , Química , Genética
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