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Figure 4 | BMC Medical Genetics

Figure 4

From: A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

Figure 4

Sequence analysis of exon 31 of the COL4A1 gene and protein sequence alignments. (A) Identification of a COL4A1 substitution mutation in a Chinese family. Directed sequence analysis of affected individuals revealed a substitution mutation (c.2345 G > C) in exon 31 of the COL4A1 gene that was not found in 200 control patients. (B) Identification of the mutation (c.2345 G > C) carrier by single enzyme digestion with the restriction endonuclease PvuII. PCR product amplified from the uncleaved fragment is shown in the first lane and the second lane. (C) Protein sequence alignments of multiple species, Homo sapiens, Bos taurus, Equus caballus and Mus musculus, indicate a very strong degree of conservation of the amino acid altered by the mutation.

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BMC Medical Genetics

ISSN: 1471-2350

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