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X. Meng, Y. Li, J. Yin, G. Cheng; Mutation Screening in Two Chinese Families With Autosomal Dominant Congenital Cataract. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4655.
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© ARVO (1962-2015); The Authors (2016-present)
To screen candidate genes and identify mutation in two Chinese autosomal dominant nuclear cataract pedigrees.
Genomic DNA was extracted from each individual in two three-generation Chinese cataract families included all 8 patients with QIAamp DNA Blood Midi Kit. Intron primers were designed for each exon of CRYAA, CRYAB,CRYBA1,CRYGA,CRYGC, and CRYGD genes. Single band PCR product was confirmed by Agrose gel and cleaned up by SAP-ExoI treatment. Sequences from patients and the family members were alignment compared with the NCBI genome sequences. Mutation suspect sequence then compared with 50 normal controls.
A novel exon 6 splicing site mutation ( A to G ) was identified from CRYAB gene in one family. Seven to sixteen SNPs were also identified in each of the 6 candidate genes from the coding or non-coding region in both families.
The splice site mutation will influence CRYAB gene intron splicing and result of the mRNA dysfunction in patients. Need furthermore sequencing and linkage analysis work in another pedigree.Keywords:Cataract, mutation, genetics, splicingCommercial Relationship: X.Meng, None; Y.Li, None; J.Yin, None; G.Cheng, None
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