Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa.
- Author:
Yun TENG
1
;
Hong TIAN
;
Hui WANG
;
Xiaofeng HU
;
Wei WANG
;
Yan CHEN
;
Zhenrong YANG
Author Information
1. Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Family Health;
Female;
Genes, Dominant;
genetics;
Humans;
Male;
Middle Aged;
Pedigree;
Point Mutation;
Polymerase Chain Reaction;
Polymorphism, Single-Stranded Conformational;
Retinitis Pigmentosa;
genetics;
Sequence Analysis, DNA
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2003;23(3):242-253
- CountryChina
- Language:English
-
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.
