Analysis of BEST-1 gene mutations with vitelliform macular dystrophy in one Chinese family

Guoji Yanke Zazhi

Ying-Hua Wei¹  Ying Lin² 

[1] Department of Ophthalmology, the Third Affiliated Hospital of Liaoning Medical College, Jinzhou 121000, Liaoning Province, China;Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, Guangdong Province, China;

关键词: BEST-1 gene;    congenital vitelliform macular dystrophy;    mutation;    Best disease;    Best disease;   

DOI  :  10.3980/j.issn.1672-5123.2014.06.50

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown