Analysis of BEST-1 gene mutations with vitelliform macular dystrophy in one Chinese family
10.3980/j.issn.1672-5123.2014.06.50
- VernacularTitle:卵黄样黄斑营养不良一家系的BEST-1基因突变分析
- Author:
Ying-Hua, WEI
;
Ying, LIN
- Publication Type:Journal Article
- Keywords:
BEST - 1 gene;
congenital vitelliform macular dystrophy;
mutation;
Best disease
- From:
International Eye Science
2014;(6):1154-1156
- CountryChina
- Language:Chinese
-
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.
