Detection and Assignment of Mutations and Minihaplotypes in Human DNA Using Peptide Mass Signature Genotyping (PMSG): Application to the Human RDS/Peripherin Gene

Table 6.

Effect of Using Multiple Reading Frames in PMSG Analysis to Detect All Possible Single Nucleotide Substitutions in Exons 2 and 3 of the RDS/Peripherin Gene



12-Da detection threshold

5-Da detection threshold

Total
Nonsynonymous
Total
Nonsynonymous
A. Predicted number of substitutions not detected in 252-nt exon 2 sequence (756 possibilities)
   RF1 231 (30.5%) 65 (8.6%) 214 (28.3%) 52 (6.9%)
    RF1, RF4 151 (20.0%) 54 (7.1%) 141 (18.6%) 39 (5.2%)
    RF1, RF2 88 (11.6%) 42 (5.6%) 80 (10.5%) 34 (4.5%)
    RF1, RF2, RF4 52 (6.9%) 31 (4.1%) 44 (5.8%) 26 (3.4%)
B. Predicted number of substitutions not detected in 213-nt exon 3 sequence (639 possibilities)
    RF1 225 (35.2%) 76 (11.9%) 213 (33.3%) 67 (10.5%)
    RF1, RF3 152 (23.8%) 55 (8.6%) 142 (22.2%) 44 (6.9%)
    RF1, RF6 31 (4.9%) 21 (3.3%) 19 (3.0%) 12 (1.9%)
    RF1, RF3, RF6
18 (2.8%)
16 (2.5%)
9 (1.4%)
7 (1.1%)

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  1. Genome Res. 13: 1944-1951

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