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.