An integrated genetic approach to identify candidate genes for human chromosome 6q-linked retinal disorders.
An integrated genetic approach to identify candidate genes for human chromosome 6q-linked retinal disorders.
复制标题
一种综合遗传方法，用于识别人类染色体 6q 连锁视网膜疾病的候选基因。
DOI：
10.1007/978-1-4615-0067-4_3
复制
发表时间：
2003
影响因子：
--
通讯作者：
Wong,PaulW
中科院分区：
文献类型：
--
作者：
Lagali,PamelaS;Ayyagari,Radha;Wong,PaulW
In recent years the field of retinal gene discovery has experienced an explosion. An estimated 10,000-30,000 genes are thought to be expressed in the human retina (Shimizu-Matsumoto et al., 1997), with nearly 5,000 retinal transcripts catalogued from expressed sequence tag (EST) datasets (Bortoluzzi et al., 2000) and over 26,000 different transcripts represented in retina serial analysis of gene expression (SAGE) libraries (Sharon et al, 2002). A wide variety of methods have been developed and utilized to define novel retinal genes, particularly in an effort to identify genes targeted in human retinopathies. To date there are 144 diseases of the retina described that have been mapped to human chromosomal locations, and an additional 41 human disorders involving some form of retinal dystrophy for which the genetic map locations have yet to be determined (RetNet Retinal Information Networkhttp://www.sph.uth.tmc.edu/retnet/;Online Mendelian Inheritance in Man (OMIM)http://www.ncbi.nlm.nih.gov/omim/). Despite recent efforts to discover novel genes by analyzing increasingly greater volumes of information arising from human genomic sequence data organization and expression studies, the disease genes for less than one-half of these conditions have at present been cloned. While some of these disorders may be attributed to allelic heterogeneity, a significant number of genes that account for retinal degenerative phenotypes remain to be defined.
