Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.

ABSTRACT:

Purpose

To describe the phenotype and genotype of three Mainland Chinese families affected by choroideremia (CHM).

Methods

Complete ophthalmic examinations were conducted in three unrelated Chinese families with CHM. Peripheral blood samples were collected from the families for genetic and immunoblot analysis. All exons and flanking intronic regions of the gene encoding Rab escort protein-1 (Rep-1) were amplified with PCR and screened for mutations with Sanger sequencing. The three-dimensional structure of mutated Rep-1 was modeled using sequence homology with rat proteins to analyze the effect of the mutation detected in one family.

Results

All affected males had characteristic signs and symptoms of CHM; however, central visual acuity impairment occurred earlier than

SUBMITTER: Zhou Q 

PROVIDER: S-EPMC3283217 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature