| Mutation Identification in A 5-Generation Pedigree with Autosomal Dominant Retinitis Pigmentosa |
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| 作者姓名： | 滕云 田虹 王慧 胡晓峰 王嵬 陈燕 杨真荣 |
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| 作者单位： | Department of Medical Genetics，Department of Medical Genetics，Department of Medical Genetics，Department of Medical Genetics，Centre for Human Genetics，Department of Medical Genetics，Department of Medical Genetics Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030，Edith Cowan University，Perth，WA 6027，Australia，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430030 |
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| 摘 要： | RetinitisPigmentosa (RP)referstoagroupofinheritedretinaldystrophiesthatarecharacterizedbyprogressivephotoreceptordegeneration InWesterncountriesRPhasareportedprevalenceof 19- 2 7per10 0 0 0 0 1] Thesimilarprevalenceof 2 5 per 10 0 0 0 0wasalsoobservedinChina2 ] GenescausingRPhavebeenidentifiedbyacombinationoflinkagemapping ,cloningandcandidatetesting Geneticheterogeneity ,allelicheterogeneityandclinicalheterogeneityhavebeendemonstratedamongpatientswithautosomaldominantRP (adRP) ,auto…
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| 收稿时间： | 28 May 2002 |
Mutation identification in A 5-generation pedigree with autosomal dominant retinitis pigmentosa |
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| Teng Yun,Tian Hong,Wang Hui,Hu Xiaofeng,Wang Wei,Chen Yan,Yang Zhenrong.Mutation Identification in A 5-Generation Pedigree with Autosomal Dominant Retinitis Pigmentosa[J].Journal of Zuazhong University of Science and Technology: Medical Edition,2003,23(3):242-244. |
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| Authors: | Teng Yun Tian Hong Wang Hui Hu Xiaofeng Wang Wei Chen Yan Yang Zhenrong |
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| Institution: | 1. Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030
2. Centre for Human Genetics, Edith Cowan University, Perth, WA 6027, Australia |
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| 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 |
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| Keywords: | autosomal dominant retinitis pigmentosa rhodopsin gene mutation identification |
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