Table 2B. Total Targeted CFTR and SPINK1 Genotyping Results.
Mutation | Patients (%) | Controls (%) | Patients w/SPINK1 mut(%) | Controls w/SPINK1 mut(%) | Co-inheritance Patients (%) | Co-inheritance Controls (%) |
---|---|---|---|---|---|---|
N34S | 27/80 (33.8) | 20/653 (3.1) | ||||
P55S | 5/80 (6.2) | 1/653 (0.2) | ||||
any SPINK1 | 29/80 (36.2) | 21/653 (3.2) | 7/29 (24.1) | 0/21 | ||
F508del | 7/80 (8.8) | 22/653 (3.4) | 4/29 (13.8) | 0/21 | 4/80 (5.0) | 0/653 (0) |
R75Q | 13/80 (16.2) | 35/653 (5.7) | 6/29 (20.7) | 1/21 (4.7) | 7/80 (8.8) | 1/653 (0.2) |
1584GtoA | 7/80 (8.8) | 28/653 (4.3) | 5/29 (17.2) | 3/5 (60.0) | 4/80 (5.0) | 3/150 (2.0) |
IVS8 T5-TG12 | 4/80 (5.0) | 4/150 (2.7) | 1/29 (3.4) | 0/5 | 1/80 (1.2) | 0/150 (0) |