OBJECTIVE: To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred. METHODS: Sixteen normal persons and 18 RP patients in a ADRP family were recruited. Genome scan method based on fluorescence labeled (using 3 different labels: 6-FAM, HEX, and NED) microsatellite markers with multiplex PCR system was used to identify loci influencing susceptibility to ADRP. Fourteen microsatellites (D3S1297, D3S1263, D3S1266, D3S1289, D3S1300, D3S3681, D3S1271, D3S1292, D3S1569, D3S1279, D3S1614, D3S1262, D3S1580 and D3S1311) on chromosome 3 were used as genetic markers. Linkage analysis (using Genescan3.0, GeneScan Analysis 2.1, Genotyper 2.1 and Designer sofe system) was performed using these markers. RESULTS: The LOD value was <or= -2 in all 14 microsatellites in chromosome 3, indicating that there was no linkage between these markers and RP related gene in this kindred. CONCLUSION: The RP related gene in this kindred is located on chromosomes other than chromosome 3 and is not caused by the mutation of rhodopsin gene.
|Original language||English (US)|
|Number of pages||3|
|Journal||[Zhonghua yan ke za zhi] Chinese journal of ophthalmology|
|State||Published - Apr 2003|
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