Analysis of BEST-1 gene mutations with vitelliform macular dystrophy in one Chinese family / 国际眼科杂志(Guoji Yanke Zazhi)
International Eye Science
;
(12): 1154-1156, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-641866
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
International Eye Science
Ano de publicação:
2014
Tipo de documento:
Artigo
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