Group 1) (patients with symptoms typical for/indicative of CF) | ||||||||
---|---|---|---|---|---|---|---|---|
No.: | Diagnosisa | Sex | Age | Intron 8 | 16 mut. | 29 mut.b | seq.c | DGGEd |
1 | 2 × path. IRT, normal sweat test | f | 0 | 7T/9T | DF508/3849+10kb C-T | x | ||
2 | CF, substantiation | f | 0 | 9T/9T | 621+1G-T/621+1G-T | |||
3 | CF, substantiation | f | 1 | 9T/9T | DF508/DF508 | x | ||
4 | CF, substantiation | f | 5 | 9T/9T | DF508/DF508 | x | x | x |
5 | CF, substantiation | f | 7 | 9T/9T | DF508/G542X | x | x | |
6 | CF, substantiation, rec. diarrhoe, pancreas insufficiency, pos. sweat test | f | 8 | 9T/9T | DF508/DF508 | x | ||
7 | CF, substantiation | f | 12 | 9T/9T | DF508/DF508 | x | ||
8 | CF, substantiation | f | 13 | 9T/9T | DF508/DF508 | x | ||
9 | f | 13 | 7T/9T | DF508/WT | ||||
10 | CF, substantiation | f | 16 | 9T/9T | DF508/G542X | |||
11 | indicative linkage analysis | f | 22 | 7T/9T | DF508/WT | x | ||
12 | f | 24 | 7T/9T | DF508/WT | x | |||
13 | bronchiectasis, bronchopulmonal infections since infancy | f | 28 | 7T/9T | DF508/3849+10kbC-T | x | ||
14 | pos. sweat test | f | 28 | 9T/9T | DF508/WT | x | ||
15 | typical clinic, pos. sweat test | f | 31 | 7T/9T | DF508/WT | x | x | |
16 | f | 32 | 7T/7T | 3849+10kb C-T/WT | ||||
17 | pulmonal course typical of CF | f | 32 | 7T/9T | DF508/WT | x | x | x |
18 | f | 34 | 7T/7T | G551D/WT | x | x | ||
19 | f | 41 | 7T/7T | DF508/WT | ||||
20 | CF, substantiation | f | 56 | 7T/9T | DF508/3849+10kb C-T | x | ||
21 | ||||||||
22 | CF, substantiation | m | 0 | 9T/9T | DF508/DF508 | x | ||
23 | m | 1 | 7T/9T | DF508/WT | x | |||
24 | impaired lung function, intestinal complications | m | 3 | 7T/9T | DF508/WT | x | x | |
25 | CF, substantiation | m | 5 | 9T/9T | DF508/DF508 | |||
26 | m | 12 | 7T/7T | G551D/WT | x | x | ||
27 | CF, substantiation | m | 17 | 9T/9T | DF508/DF508 | |||
28 | m | 18 | 7T/7T | R117H/WT&1466delAATT/1466delAATT | 1466delAATT | x | ||
29 | pos sweat test | m | 20 | 7T/9T | DF508/WT | |||
30 | CF, substantiation | m | 25 | 9T/9T | DF508/DF508 | |||
31 | . | m | 26 | 5T/9T | DF508/WT | |||
32 | m | 30 | 5T/9T | DF508/WT | ||||
33 | CF, substantiation | m | 31 | 7T/9T | DF508/1248A-G | x | 1248 A/G | x |
34 | 2 × pos. sweat tests, bronchopul. infect., azoospermia, pancreatitis | m | 31 | 9T/9T | DF508/WT | |||
35 | CF, substantiation | m | 33 | 9T/9T | DF508/DF508 | x | ||
36 | m | 33 | 7T/9T | DF508/WT | ||||
37 | m | 33 | 7T/9T | DF508/WT | ||||
38 | m | 38 | 7T/9T | R117H/G542X | ||||
Group 2a) (Patients from IVF clinics) | ||||||||
No.: | Diagnosis | Sex | Age | Intron 8 | 16 mut. | 29 mut. b | seq. c | DGGE d |
39 | m | 24 | 7T/9T | WT | ||||
40 | m | 25 | 9T/9T | WT | ||||
41 | m | 28 | 5T/9T | DF508/WT | x | |||
42 | m | 28 | 5T/9T | DF508/WT | ||||
43 | m | 29 | 5T/9T | DF508/WT | x | x | x | |
44 | m | 30 | 7T/7T | WT | x | |||
45 | m | 31 | 5T/9T | DF508/WT | x | x | x | |
46 | m | 31 | 7T/7T | WT | x | |||
47 | m | 31 | 7T/9T | WT | x | |||
48 | m | 33 | 7T/9T | DF508/WT | x | |||
49 | m | 34 | 7T/7T | WT | x | |||
50 | m | 34 | 9T/9T | DF508/WT | x | |||
51 | m | 35 | 7T/9T | G542X/WT | ||||
52 | m | 36 | 5T/9T | DF508/WT | ||||
53 | m | 39 | 5T/9T | DF508/WT | x | x | ||
54 | m | 40 | 7T/7T | WT | ||||
55 | m | 40 | 5T/9T | DF508/WT | x | x | x | |
56 | m | 44 | 9T/9T | WT | ||||
57 | m | 45 | 7T/7T | WT | x | |||
58 | m | 47 | 7T/7T | WT | ||||
Group 3) (Patients with relatives having CF) | ||||||||
No.: | Diagnosis | Sex | Age | Intron 8 | 16 mut. | 29 mut. b | seq. c | DGGE d |
59 | f | 42 | 7T/7T | 3849+10kb C-T/WT | x | |||
60 | f | 15 | 7T/9T | DF508/WT | x | |||
61 | f | 20 | 7T/9T | DF508/WT | x | |||
62 | f | 23 | 7T/9T | DF508/WT | x | |||
63 | f | 25 | 7T/9T | DF508/WT | x | x | x | |
64 | f | 26 | 7T/9T | DF508/WT | ||||
65 | f | 32 | 7T/9T | DF508/WT | x | |||
66 | f | 40 | 7T/9T | DF508/WT | x | x | ||
67 | f | 65 | 9T/9T | DF508/WT | ||||
68 | f | 30 | 7T/9T | DF508/WT | x | |||
69 | m | 14 | 9T/9T | DF508/WT | x | |||
70 | m | 16 | 7T/9T | DF508/WT | ||||
71 | m | 25 | 7T/9T | DF508/WT | x | x | x | |
72 | m | 28 | 5T/9T | DF508/WT | x | |||
73 | m | 32 | 7T/9T | DF508/WT | x | x | ||
74 | m | 45 | 7T/9T | DF508/WT | x | x | ||
75 | m | 48 | 7T/9T | DF508/WT | x | |||
76 | m | 69 | 7T/9T | DF508/WT | ||||
77 | m | 30 | 7T/9T | G542X/WT | x | x | ||
78 | m | 15 | 7T/7T | G551D/WT | x |