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Table 3 Description of the results of the genotypes found

From: Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis

 

Argentina (n = 2491)

Brazil (n = 2620)

Chile (n = 3352)

Colombia (n = 2057)

LATAM (n = 10,520)

Spain (n = 18,272)

Turkey (n = 2035)

Total (n = 30,827)

No mutation

2107 (84.6)

1875 (71.6)

2929 (87.4)

1800 (87.5)

8711 (82.8)

10,693 (58.5)

1895 (93.1)

21,300 (69.1)

Any mutation

384 (15.4)

745 (28.4)

423 (12.6)

257 (12.5)

1809 (17.2)

7579 (41.5)

140 (6.9)

9528 (30.9)

 Frequent genotypes:

359 (14.4; 93.5)

670 (25.6; 89.9)

381 (11.4; 90.1)

248 (12.1; 96.5)

1658 (15.8; 91.7)

6934 (37.9; 91.5)

53 (2.6; 37.9)

8645 (28.0; 90.7)

  MS

237 (9.5; 61.7)

332 (12.7; 44.6)

287 (8.6; 67.8)

193 (9.4; 75.1)

1049 (10.0; 58.0)

3466 (19.0; 45.7)

7 (0.3; 5.0)

4522 (14.7; 47.5)

  MZ

95 (3.8; 24.7)

194 (7.4; 26.0)

76 (2.3; 18.0)

35 (1.7; 13.6)

400 (3.8; 22.1)

2200 (12.0; 29.0)

39 (1.9; 27.9)

2639 (8.6; 27.7)

  SS

12 (0.5; 3.1)

22 (0.8; 3.0)

8 (0.2; 1.9)

8 (0.4; 3.1)

50 (0.5; 2.8)

550 (3.0; 7.3)

0 (0.0; 0.0)

600 (1.9; 6.3)

  SZ

10 (0.4; 2.6)

43 (1.6; 5.8)

6 (0.2; 1.4)

6 (0.3; 2.3)

65 (0.6; 3.6)

536 (2.9; 7.1)

0 (0.0; 0.0)

601 (1.9; 6.3)

  ZZ

5 (0.2; 1.3)

79 (3.0; 10.6)

4 (0.1; 0.9)

6 (0.3; 2.3)

94 (0.9; 5.2)

181 (1.0; 2.4)

7 (0.3; 5.0)

282 (0.9; 3.0)

 Allele S

260 (10.4; 67.7)

399 (15.2; 53.6)

301 (9.0; 71.2)

208 (10.1; 80.9)

1168 (11.1; 64.6)

4687 (25.7; 61.8)

7 (0.3; 5.0)

5862 (19.0; 61.5)

 Allele Z

111 (4.5; 28.9)

329 (12.6; 44.2)

94 (2.8; 22.2)

45 (2.2; 17.5)

579 (5.5; 32.0)

2884 (15.8; 38.1)

51 (2.5; 36.4)

3514 (11.4; 36.9)

 Rare alleles

20 (0.8; 5.2)

66 (2.5; 8.9)

33 (1.0; 7.8)

6 (0.3; 2.3)

125 (1.2; 6.9)

576 (3.2; 7.6)

76 (3.7; 54.6)

777 (2.5; 8.2)

 Null alleles

1 (0.0; 0.3)

6 (0.2; 0.8)

3 (0.1; 0.7)

0 (0.0; 0.0)

10 (0.1; 0.6)

31 (0.2; 0.4)

2 (0.1; 1.4)

43 (0.1; 0.4)

 New alleles

4 (0.2; 1.0)

5 (0.2; 0.7)

7 (0.2; 1.7)

3 (0.1; 1.2)

19 (0.2; 1.1)

42 (0.2; 0.5)

10 (0.5; 7.1)

71 (0.2; 0.7)

  1. Data expressed as absolute numbers with percentages in parenthesis; first value showing percentages referred to the total number of samples in the geographical area, second value showing percentages referred to the total number of cases with mutations in the geographical area