Ontology highlight
ABSTRACT:
SUBMITTER: Liu JY
PROVIDER: S-EPMC2712755 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Liu Jing Yu JY Dai Xiaohua X Sheng Jiqun J Cui Xin X Wang Xu X Jiang Xueqing X Tu Xin X Tang Zhaohui Z Bai Yan Y Liu Mugen M Wang Qing K QK
Biochemical and biophysical research communications 20080103 2
A six-generation Chinese family with autosomal dominant retinitis pigmentosa (adRP) was identified and characterized. Genome-wide linkage analysis linked the family to markers D19S601 to D19S605, which span the PRPF31 gene on chromosome 19q13.33-13.43 (RP11) (LOD=5.03). Direct DNA sequence analysis identified a novel splicing mutation (IVS1+1G>T) in affected family members and carriers, but not in unaffected family members and 200 normal controls. The splicing mutation occurs at the splicing don ...[more]