Table 1. PCR product size in base pairs for exons 7, 11, and 12 of the phenylalanine hydroxylase gene, mutation, endonuclease used, and fragments generated in base pairs.
Exon | PCR product | Mutations | Endonuclease | Fragment(s) after digestion - wild | Fragment(s) (bp) after digestion - mutated |
---|---|---|---|---|---|
7 | 263 | R261Q a | HinfI | 116/147 | 263 |
R252W a | Aval | 86/177 | 263 | ||
R261X b | DdelI | 263 | 115/148 | ||
11 | 301 | V388M a | BsaAI | 114/187 | 301 |
IVS10nt-11G>A b | DdelI | 301 | 78/223 | ||
12 | 238 | R408W b | Styl | 238 | 97/141 |
adestroys restriction site; bcreates restriction site.