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Autosomal dominant vitreoretinochoroidopathy: screening for disease-causing genes and clinical analysis of a pedigree
Pages: 771-775
Year: Issue:  7
Journal: Journal of Third Military Medical University

Keyword:  autosomal dominant vitreoretinochoroidopathyexonsglaucomaBEST1;
Abstract: Objective To detect disease-causing genes in a Chinese pedigree with autosomal dominant vitreoretinochoroidopathy( ADVIRC) by capture and sequencing for exon binding target region,and analyze the clinical phenotypes. Methods A ADVIRC pedigree,including 4 patients( probands) and 8health family members,was recruited in this study. All the patients and family members of 4 generations received complete ophthalmic examinations. Peripheral blood samples were collected from 12 persons of the family to extract their DNA from the peripheral blood leukocytes using phenol-chloroform DNA extraction. A capture sequencing chip based on exon in combination with target-binding region was used to sequence. And then PCR and direct sequencing were employed for mutation analysis on the candidate etiologic genes in all members of the family. Clinical analysis was performed in the family according to the clinical phenotypes.Results Heterozygous mutation of BEST1( c. 704 TR > C) in exon 6,were discovered in the ADVIRC family in this study. This mutation was reported in China for the first time. Microcornea,congenital cataract,retinal choroid dysplasia and glaucoma were found in the family members,which were in accordance with clinical phenotypes of the mutation. Conclusion Heterozygous mutation of BEST1( c. 704 TR > C) is one of diseasecausing genes of the ADVIRC pedigree.
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