[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers].

ABSTRACT

In this preliminary study a Chinese autosomal dominant microphthalmia family were investigated and the linkage analyses were performed with six previously reported loci (CHX10, MITF, RX, MCOP, NNO1, NNO2) and six microsatellite markers on chromosome 11 as well. The allelic polymorphisms of those microsatellite markers were identified by using polymerase chain reaction, polyacrylamide gel electrophoresis and silver-staining techniques. The LOD scores between microsatellite markers and the disease were obtained by using MLINK software. Our results showed that the linkage between the microphthalmia in this family with the 6 known loci could be excluded, indicating that the defect gene in this microphthalmia family was probably distinct from those of previously reported microphthalmia families.