TABLE 2.

Examples of complex alleles in the CFTR gene

Principal mutation Location Second site alteration Location Reference
R75X exon 3 125G->C promoter Dork, 1994 #109
405+1G->A intron 3 3030G->A exon 15 Dork, 1994 #109
R117H exon 4 129G->C promoter Zielenski, 1991 #210
R117H exon 4 IVS8:5T or 7T intron 8 Kiesewetter, 1993 #128
R297Q exon 7 IVS8:5T or 7T intron 8 Dorval, 1994 #110
[[Delta]]F508 exon 10 R553Q exon 11 Dork, 1991 #237
[[Delta]]F508 exon 10 I1027T exon 17a Dork, 1994 #109
[[Delta]]F508 exon 10 deletion of D7S8 500 kb 3' of CFTR Wagner, 1994 #255
S549N exon 11 R75Q exon 3 J Zielenski, D Markiewicz, L-C Tsui

unpublished data

L619S exon 13 1716G->A exon 10 Dork, 1994 #109
G628R(G->C) exon 13 S1235R exon 19 Cuppens, 1993 #105
2184insA exon 13 5TIVS8 exon 9 J Zielenski, J Bal, D Markiewicz, L-C Tsui

unpublished data

A800G exon 13 IVS8:5T or 7T intron 8 Chillon, 1995 #305
S912L exon 15 G1244V exon 20 Savov, 1995 #309
G1069R exon 17b L88X exon 3 Savov, 1995 #309
3732delA exon 19 K1200E exon 19 Fanen, 1991 #114
3849+10kbC->T intron 19 R668C exon 13 Dork, 1994 #109
S1251N exon 20 F508C exon 10 Kalin, 1992 #123

The status of principal mutation may not be clear in every case; e.g., G628R(G->C) versus S1235R. The details of each mutation may be obtained from previous reviews [Consortium, 1994 #231; Consortium, 1993 #269; Welsh, 1995 #176].