Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

ABSTRACT:

Purpose

Aniridia is phenotypically and genetically heterogeneous. This study is to summarize the phenotypes and identify the underlying genetic cause of the paired box 6 (PAX6) gene responsible for aniridia in two three-generation Chinese families in northern China.

Methods

A detailed family history and clinical data were collected from patients during an ophthalmologic examination. All exons and flanking intronic sequences of the PAX6 gene were amplified with PCR and screened for mutation with direct DNA sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the PAX6 messenger ribonucleic acid(mRNA) level in patients with aniridia and in unaffected family members.

Results

The probands and other patients in the two famil

SUBMITTER: Chen P 

PROVIDER: S-EPMC3669533 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature