Journal: Molecular Vision

Article Title: Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family

doi:

Figure Lengend Snippet: The CRYBB2 mutation cosegregates with the disease in the family. A : Restriction fragment length analysis (RFLP) showing the loss of the HaeIII restriction site in heterozygous individuals with the A2V mutation (185 bp) but it was present in unaffected individuals (121 bp and 64 bp). B : Multiple-sequence alignment in CRYBB2 from different species reveals that codon 2, where the mutation (p. A2V) occurred, is highly conserved (highlighted in red).

Article Snippet: PCR products of exon 2 of the CRYBB2 gene were digested for 10 h at 37 °C with HaeIII (TAKARA, Dalian, China), then electrophoresized in 5% polyacrylamide gels and analyzed under ultraviolet (UV) light.

Techniques: Mutagenesis, Sequencing