Table 3 The eight more frequent cystic fibrosis mutations in Italy and the comparison between the frequency of these mutations in south of Brazil with the frequency in Italy, Portugal, Germany and Europe

From: CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country

Mutation

South of Brazil 11, 19

Italy 53

Portugal 14

Germany 54

Europe 14

p.F508del

46.43% (143/308)

48.92% (745/1 523)

44.49% (202/454)

68.39% (4 199/6 140)

66.78% (18 149/27 177)

p.G542X

7.14% (22/308)

5.91% (90/1 523)

1.32% (6/454)

1.51% (93/6 140)

2.64% (717/27 177)

p.N1303K

4.87% (15/308)

5.91% (90/1 523)

0.66% (3/454)

1.32% (81/6 140)

1.64% (446/27 177)

p.R1162X

4.87% (15/308)

1.58% (24/1 523)

0.22% (1/454)

0.07% (4/6 140)

0.51% (139/27 177)

p.W1282X

2.60% (8/308)

1.77% (27/1 523)

0.00% (0/454)

0.24% (15/6 140)

1.00% (272/27 177)

c.2183AA>G

1.95% (6/308)

2.63% (40/1 523)

0.00% (0/454)

0.00% (0/6 140)

0.36% (99/27 177)

p.R553X

1.30% (4/308)

1.38% (21/1 523)

0.00% (0/454)

1.61% (99/6 140)

0.75% (204/27 177)

c.1717-1G>A

0.97% (3/308)

1.77% (27/1 523)

0.00% (0/454)

0.50% (31/6 140)

0.83% (226/27 177)

Others

29.87% (92/308)

30.14% (459/1 523)

53.30% (242/454)

26.35% (1 618/6 140)

25.48% (6925/27 177)

  

P=0.6401a

P<0.0001b

P<0.0001b

P<0.0001b

  1. Numbers of chromosomes with the mutation/number of analyzed chromosomes are given in parentheses.
  2. aMutations p.R1162X, c.1717-1G>A, p.W1282X, p.R553X and ‘others’ were grouped for the test.
  3. bMutations p.N1303 K, c.2183AA>G, p.R1162X, c.1717-1G>A, p.W1282X, p.R553X and ‘others’ were grouped for the test.
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