Table 1.
Gene | Known polymorphisms and mutations
|
Heteroduplexes by CSGE (detected/assayed) | |
---|---|---|---|
Exon sequences | Intron sequences | ||
COL1A1 | 18 | 22 | 40/40* |
COL1A2 | 10 | 0 | 10/10 |
COL2A1 | 8 | 15 | 23/23 |
COL3A1 | 3 | 0 | 3/3 |
Totals | 39 | 37 | 76/76 |
One single-base polymorphism in intron 21 of the COL1A1 gene was consistently detected with a PCR product spanning exon 22 but inconsistently detected with an overlapping PCR product spanning exon 21.