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): 242-253, 2003.
Article
in English
| WPRIM
| ID: wpr-330941
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Retinitis Pigmentosa
/
Polymerase Chain Reaction
/
Family Health
/
Sequence Analysis, DNA
/
Point Mutation
/
Polymorphism, Single-Stranded Conformational
/
Genes, Dominant
/
Genetics
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Journal of Huazhong University of Science and Technology (Medical Sciences)
Year:
2003
Type:
Article
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