Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

ABSTRACT:

Purpose

To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP).

Methods

Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation. Restriction fragment length polymorphism (RFLP) analysis and direct DNA sequence analysis were done to demonstrate co-segregation of the USH2A mutations with the family disease. One hundred normal controls were used without the mutations.

Results

The disease-causing gene in this Chinese family was linked to the USH2A locus on chro

SUBMITTER: Liu X 

PROVIDER: S-EPMC2842093 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature