Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred

To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred. 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,...

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Published inChung-hua yen k'o tsa chih Vol. 39; no. 4; p. 206
Main Authors Liu, Zheng, Deng, Hao, Xi, Xing-hua, Xia, Jia-hui, Pan, Qian, Dai, He-ping, Yang, Yong-jia, Deng, Han-xiang, Xia, Kun, Zheng, Duo
Format Journal Article
LanguageChinese
Published China 01.04.2003
Subjects
Asian Continental Ancestry Group
Chromosomes, Human, Pair 3 - genetics
Humans
Microsatellite Repeats
Pedigree
Retinitis Pigmentosa - genetics
Rhodopsin - genetics
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Summary:To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred. 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. 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. The RP related gene in this kindred is located on chromosomes other than chromosome 3 and is not c
ISSN:0412-4081