Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa / 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): 242-4, 253, 2003.
Artigo
em Inglês
| WPRIM
| ID: wpr-640958
ABSTRACT
An extended 5-generation family has been investigated in which 32 of the 111 family members were diagnosed as having retinitis pigmentosa (RP). The proband was a 58-year old male in whom night-blindness was first observed in early childhood, with almost loss of vision by 52 years of age. The symptoms observed in other family members included night-blindness, impaired vision and visual field loss. Dementia, digital abnormalities, deaf-mutism and mental retardation were variously diagnosed in a number of individuals with RP. The affected and unaffected family members were tested for mutations in a range of candidate genes. The 8 exons of three candidate genes have been analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing techniques. A novel mutation was identified in the rhodopsin gene at codon 52 of exon 1 (TTC-TAC) that resulted in a substitution of Phe to Tyr.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Retinose Pigmentar
/
Reação em Cadeia da Polimerase
/
Saúde da Família
/
Análise de Sequência de DNA
/
Mutação Puntual
/
Polimorfismo Conformacional de Fita Simples
/
Genes Dominantes
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Journal of Huazhong University of Science and Technology (Medical Sciences)
Ano de publicação:
2003
Tipo de documento:
Artigo
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