Table 1

Exons and introns that are amplified with the line probe assay, and the mutations they encompass

Roche assay:

Amplicon

Mutations

exon 4

R117H,621+1G → T

exon 7

R334W, R347P

exon 9

A455E, 5/7/9T polymorphism

exon 10

Δ1507, ΔF508. F508C, I507V, I506V polymorphism

exon 11

1717-1G → A, G542X, S549N, G551D, R553X, R560T

exon 20

W1282X

exon 21

N1303K

intron 19

3849+10kb C → T

Innogenetics assay:

exon 3

394delTT, G85E, E60X

exon/intron 4

621+1G-T, R117H

exon 7

1078delT, R347P, R334W

exon 13

2143delT, 2183AA-G, 2184delA

exon 19

R1162X, 3659delC

intron 5

711+5G-A

intron8/exon 9

A455E,, 5T,7T,9T

intron 14b

2789+5G-A

intron 19

3849+10kb C-T


Huber et al. BMC Clinical Pathology 2002 2:4   doi:10.1186/1472-6890-2-4

Open Data