Genetic analysis of a Chinese family with autosomal dominant congenital cataract

Abstract

AIM: To investigate a Chinese autosomal dominant congenital cataract(ADCC)family and to find the relationship between the candidate gene and this pedigree. METHODS: The clinical data and blood samples of the ADCC family were collected.Microsatellite markers were chosen according to 24 known candidate genes of ADCC. Lod scores of microsatellite markers were calculated with Mlink package of linkage software. RESULTS: The phenotype of this family was nuclear cataract. After linkage analyzing,Lod scores of 50 microsatellite markers were less than zero. There was no linkage between the microsatellite markers and this pedigree.CONCLUSION: The related gene of this family is not among the known genes of ADCC maybe there is a new pathogenic gene in this pedigree.

Keywords

• autosomal dominant cataract
• linkage analyzing
• gene