Analysis of <i>BEST-1</i> gene mutations with vitelliform macular dystrophy in one Chinese family

• Main Authors: Ying-Hua Wei, Ying Lin
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2014-06-01
• Series: Guoji Yanke Zazhi
• Subjects: <i>BEST-1</i> gene; congenital vitelliform macular dystrophy; mutation; Best disease
• Online Access: http://www.ies.net.cn/cn_publish/2014/6/201406050.pdf

AIM: To identify intragenic mutation loci of the <i>BEST-1</i> gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.<p>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 <i>BEST-1</i> 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.<p>RESULTS:After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy. <p>CONCLUSION:There is no mutation in the exons of <i>BEST-1</i> gene causing disease genes in this family.