Skip to main content
. Author manuscript; available in PMC: 2012 Jan 1.
Published in final edited form as: Gastroenterology. 2010 Oct 25;140(1):162–171. doi: 10.1053/j.gastro.2010.10.045

Table 2B. Total Targeted CFTR and SPINK1 Genotyping Results.

Carrier rates of each mutation in SPINK1 (N34S, P55S, any) or CFTR (F508del, R75Q, 1584GtoA, T5-TG12) are represented as a fraction of total subjects genotyped and (columns 2, 3). Carrier rates of CFTR mutations within the subset of SPINK1 mutation carriers are expressed in fraction of carriers (columns 4, 5) and fraction of total subjects (columns 6,7)

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)