ABSTRACT
AIM:To identify intragenic mutation loci of the BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China. METHODS: Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST - 1 amplified by polymerase chain reaction ( PCR ) were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls. RESULTS: After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy. CONCLUSION:There is no mutation in the exons of BEST-1 gene causing disease genes in this family.