Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.

ABSTRACT:

Purpose

To describe the clinical and genetic findings in two Chinese families with aniridia and other ocular abnormalities.

Methods

Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Mutation screening of all exons of the PAX6 (paired box gene 6) gene was performed by direct sequencing of PCR-amplified DNA fragments. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect large deletions. Linkage analysis was used to validate the large deletions revealed by MLPA in all available family members.

Results

Clinical examination and pedigree analysis revealed one four-generation family (85) and one three- generation family (86) with total aniridia,

SUBMITTER: Zhang X 

PROVIDER: S-EPMC3044699 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature