10.1371/journal.pone.0095528.s001
Xiao Zhang
Xiao
Zhang
Xianglian Ge
Xianglian
Ge
Wei Shi
Wei
Shi
Ping Huang
Ping
Huang
Qingjie Min
Qingjie
Min
Minghan Li
Minghan
Li
Xinping Yu
Xinping
Yu
Yaming Wu
Yaming
Wu
Guangyu Zhao
Guangyu
Zhao
Yi Tong
Yi
Tong
Zi-Bing Jin
Zi-Bing
Jin
Jia Qu
Jia
Qu
Feng Gu
Feng
Gu
File S1 - Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
Public Library of Science
2014
Computational biology
Evolutionary biology
population genetics
genetics
Human genetics
mutation
molecular biology
Molecular biology techniques
Sequencing techniques
Sequence analysis
Population biology
Clinical genetics
ophthalmology
Inherited eye disorders
Macular disorders
Pediatric ophthalmology
Retinal disorders
pediatrics
putative
stargardt
2014-04-24 02:43:56
Dataset
https://plos.figshare.com/articles/dataset/_Molecular_Diagnosis_of_Putative_Stargardt_Disease_by_Capture_Next_Generation_Sequencing_/1006533
<p>Contains the following files: <b>Figure S1.</b> Color fundus photographs of the patients. Color fundus photograph of probands from family A (A), family C (B) and family D (C). All of images showed bull's-eye maculopathy, which is one of the standards for Stargardt disease diagnosis. <b>Figure S2.</b> DNA sequence chromatograms of the controls. DNA sequence chromatograms of the controls. The peaks pointed out by red arrow were the mutation sites identified in this study (here is the wild-type). <b>Figure S3.</b> Visual field testing of the patient from family E. Visual field testing showed central scotomas, while the periphery was spared. <b>Figure S4.</b> Electro-oculogram of the patient from family E. The decreased Arden ratios of the electro-oculogram (EOG) were 1.2 and 1.5, compared with that of normal (1.8). <b>Figure S5.</b> <i>ABCA4</i> mutations at protein level. The mutations were mapping to each domains of the ABCA4 protein. Each line in red represents one mutation. Blue lines represent mutation identified in this study. <b>Figure S6.</b> <i>ABCA4</i> mutations and their relative frequencies at protein level. The mutations were mapped to each domains of the ABCA4 protein. There are four mutation-rich loops (intercellular loop 4, intercellular loop 7 and extracelluar loop 1 and extracelluar loop 5). Here it suggests that they are in a key functional region of ABCA4. <b>Figure S7.</b> The mutations in each exon and their relative mutation rate in <i>ABCA4</i>-related diseases. We mapped all the ABCA4 mutations to its 50 exons and found five exons (3, 13, 22, 29 and 47) have more mutations per length than that of other exons. <b>Table S1.</b> PCR information for the amplication of <i>ABCA4</i>,<i>PROM1</i> and <i>VMD2</i> genes. <b>Table S2.</b> Capture Next Generation Sequencing of <i>ABCA4</i>, <i>PROM1</i>, <i>PRPH2</i>, <i>VMD2</i> and <i>ELOVL4</i> genes. <b>Table S3.</b> Additional DNA variants identified in CNGS. <b>Table S4.</b> Brief Comparison of Stargardt Disease and Cone-Rod Dystrophy.</p> <p>(RAR)</p>