Table 2 Analysis of delta3-transcript expression by fragment analysis, allele specific PCR on c.26 G>A heterozygous samples and competitive quantitative C-QPCR
Fragment analysis % delta3-transcript /total transcripts (± standard deviation) | Allelic discrimination Exclusively on exon3 full-length transcript (± standard deviation) | Competitive QPCR % delta3-transcript /full-length transcript (± standard deviation) | ||
|---|---|---|---|---|
A allele | B allele | |||
Wild-type (10 samples) | 8 ± 2% * | 48 ± 4%A | 52%G | 4 ± 2% |
c.316+3delA | 52 ± 7%# | 0% A | 100%G** | 44 ± 4% |
Delta3 BRCA2 rearrangement | 61 ± 3%# | - | - | 44 ± 7% |
Intron 2 variants | ||||
c.68-7T>A | 14 ± 2%# | - | - | 31 ± 10% |
c.68-7T>A | 23 ± 4%# | - | - | 25 ± 4% |
c.68-7T>A | 52 ± 2% | 27 ± 6%A | 73%G | 23 ± 3% |
c.68-7T>A | 45 ± 12% | 33 ± 3%A | 67%G | 27 ± 3% |
c.68-7delT | 22 ± 2%# | 28 ± 2%A | 72%G | 32 ± 5% |
c.68-7_8delinsAA | 49 ± 1% | 72 ± 10%A | 28%G | 25 ± 2% |
Missense mutations | ||||
c.125>G, p.Tyr42Cys | 6 ± 1% | 47 ± 7%A** | 53%G** | 3 ± 1% |
c.223G>C, p.Ala75Pro | 3 ± 1% | 50 ± 1%G** | 50%C** | 5 ± 2% |
Nonsense mutations | ||||
c.71T>A, p.Leu24X | 5 ± 1% | 52 ± 2%T** | 48%A** | 2 ± 1% |
c.244A>T, p.Lys82X | 11 ± 1% | 52 ± 4%A** | 48%T** | 11 ± 2% |
c.250C>T, p.Gln84X | 12 ± 1% | 57 ± 4%C** | 43%T** | 10 ± 6% |