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Abstract #24303 Published in IGR 11-3
Mapping the disease-causative gene for a Chinese pedigree with primary open angle glaucoma
Liu T; He XChinese Ophthalmic Research 2009; 27: 401-406
OBJECTIVE: A large Chinese pedigree family with primary open angle glaucoma( POAG) was recently found hy our study group in Chongqing city. The inheritance pattern in the members of this family is consistant to Mendel laws of inheritance. This study was to map the disease-causative gene of POAG in the families and significant autosomal dominant inheritance pattern. METHODS: Strict phenotype-defining was made on survival 34 suhjects of 4 generations in this pedigree before sampling. Linkage analysis was used to screen the candidate loci of POAG (including MY0C, OPTN, WDR36 and CYP1B1) by means of short tandem repeat (STR) in a family with 32 suhjects including 11 patients and 21 members,and fine mapping was proceeded within the linked region. This study was approved by the Ethics Committee of Daping Hospital, Third Military Medical University and all participants gave the written informed consent. RESULTS: This spacial family had a total of 7 generations with over 50 members. POAG was determined in 16 memers and suspective POAG in 7. The inheritant pattern was consistant to the autosomal dominant inheritance. When θ = 0. 00, the LODs of D252369, D2S2352, D25378 and D2S337 was equal to 4. 584 , 2. 992,6. 238 and 4. 892 ,respectively, thus the linked region was narrowed down to 2p15-pl6. 3 and there were at least 12 genes expression in the eye within the region. This study was the first time to report so narrow range of locus of disease-causative gene for the POAG pedigree. CONCLUSION: The disease-causative gene of the pedigree is mapped to the interval from D252369 to D2S337 within 2p15-pl6. 3 ,which is consistent with the study by Suriyappernma SP in 2007. LA: Chinese
Dr. T. Liu, Department of Ophthalmology, Daping Hospital, Third Military Medical University, Chongqing 400042, China. tingliu1597@126.com
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
