Table 2.
Exon/Intronand Positiona | Screening Method | Allele(Frequency) |
Exon 1: | ||
−253 | Direct sequencing | G (1.00) |
C (0.0) | ||
−247 | Direct sequencing | A (.46) |
C (.54) | ||
−246 | Direct sequencing | G (1.00) |
T (.00) | ||
−151 | Direct sequencing | G (.93) |
T (.07) | ||
−118 | Direct sequencing | C (.84) |
G (.16) | ||
Intron 2: | ||
IVS2−47 | HDA | G (.61) |
C (.39) | ||
Intron 4: | ||
IVS4−327 | HinfI digestion | G (.94) |
A (.06) | ||
Intron 6: | ||
IVS6−150 | SfcI digestion | T (.96) |
C (.04) | ||
IVS6−237 | Direct sequencing | A (.73) |
C (.27) | ||
Exon 7: | ||
767 (P256R)b | HDA | C (.95) |
G (.05) | ||
Intron 8: | ||
IVS8+57b | DGGE | A (.96) |
C (.04) | ||
Exon 9: | ||
911 (R304H) | DGGE | G (.61) |
A (.39) | ||
Intron 10: | ||
IVS10−22b | DGGE | G (.97) |
C (.03) |
Nucleotides are numbered according to the PPOX cDNA sequence (see “Numbering System” subsection in text).
Previously unrecognized SNPs.