Table 2

Genotypes of patients with mutations, final results

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

DGGEd


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

DGGEd


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


Details for diagnoses, number of mutations analysed, methods used, and other specifics for individuals with found mutations within the three groups are shown. A complete documentation comprising all persons examined is available upon request. Asterisks denote samples that were tested additionally to the Roche assay. In two cases, mutations were found only by sequencing, these mutations are shown in the column "seq". Other than that, all mutations were found merely by the Roche assay. aThe diagnoses are shown for the individuals specified. In the cases, where no diagnosis are given, the referrals were based on clinical symptoms suspicious for CF. No special diagnosis is given for the group of patients from IVF clinics and probands with relatives having CF. bThe asterisk denotes individuals that were analysed for 29 mutations (see table 1). cFragments (one to five) were sequenced when the DGGE analysis d showed bands indicating heterozygosity.

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

Open Data