PURPOSE: To analyze the role of the two primary open angle glaucoma (POAG) genes, myocilin (MYOC) and optineurin (OPTN), in a large Philippine family segregating autosomal dominant juvenile onset open angle glaucoma (JOAG). METHODS: The coding sequences of the MYOC and OPTN genes were screened in 27 family members by polymerase chain reaction and direct sequencing. The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction endonuclease assay. All of the ABI MD-10 microsatellite markers on chromosomes 1, 2, 3, 7, 8, and 10, which harbor the six known POAG loci, were analyzed for linkage with POAG. RESULTS: No mutation was identified in this large kindred. Instead, three polymorphisms (-80G->A, -1000G->C, R76K) in MYOC and four polymorphisms (T34T, M98K, R545Q, IVS7+24G->A) in OPTN were found. All markers flanking the six known POAG loci gave LOD scores not more than 1.1. Non-parametric linkage analysis for all these markers resulted in p values more than 0.05. CONCLUSIONS: Both mutation testing and linkage analysis provide strong evidence against MYOC and OPTN being the causative gene in this large family. It indicates that unidentified genes will underlie the occurrence of glaucoma in this family.
PURPOSE: To analyze the role of the two primary open angle glaucoma (POAG) genes, myocilin (MYOC) and optineurin (OPTN), in a large Philippine family segregating autosomal dominant juvenile onset open angle glaucoma (JOAG). METHODS: The coding sequences of the MYOC and OPTN genes were screened in 27 family members by polymerase chain reaction and direct sequencing. The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction endonuclease assay. All of the ABI MD-10 microsatellite markers on chromosomes 1, 2, 3, 7, 8, and 10, which harbor the six known POAG loci, were analyzed for linkage with POAG. RESULTS: No mutation was identified in this large kindred. Instead, three polymorphisms (-80G->A, -1000G->C, R76K) in MYOC and four polymorphisms (T34T, M98K, R545Q, IVS7+24G->A) in OPTN were found. All markers flanking the six known POAG loci gave LOD scores not more than 1.1. Non-parametric linkage analysis for all these markers resulted in p values more than 0.05. CONCLUSIONS: Both mutation testing and linkage analysis provide strong evidence against MYOC and OPTN being the causative gene in this large family. It indicates that unidentified genes will underlie the occurrence of glaucoma in this family.
Authors: Li Jia Chen; Pancy O S Tam; Clement C Y Tham; Xiao Ying Liang; Sylvia W Y Chiang; Oscar Canlas; Robert Ritch; Douglas J Rhee; Chi Pui Pang Journal: Mol Vis Date: 2010-10-08 Impact factor: 2.367
Authors: Yutao Liu; Stephen Akafo; Cecile Santiago-Turla; Claudia S Cohen; Karen R Larocque-Abramson; Xuejun Qin; Leon W Herndon; Pratap Challa; Silke Schmidt; Michael A Hauser; R Rand Allingham Journal: Mol Vis Date: 2008-12-18 Impact factor: 2.367
Authors: Arun Kumar; Manjunath G Basavaraj; Santosh K Gupta; Imteyaz Qamar; Abdullah Mahmood Ali; Vineeta Bajaj; T K Ramesh; D Ravi Prakash; Jyoti S Shetty; Syril K Dorairaj Journal: Mol Vis Date: 2007-04-30 Impact factor: 2.367
Authors: Francisco Lopez-Martinez; Maria-Pilar Lopez-Garrido; Francisco Sanchez-Sanchez; Ezequiel Campos-Mollo; Miguel Coca-Prados; Julio Escribano Journal: Mol Vis Date: 2007-06-14 Impact factor: 2.367
Authors: Bao Jian Fan; Wendy Charles Ko; Dan Yi Wang; Oscar Canlas; Robert Ritch; Dennis S C Lam; Chi Pui Pang Journal: Mol Vis Date: 2007-05-23 Impact factor: 2.367