ABCMdb

PMID: 16193325

Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, Ellis L, Shea J, Hopper I, Corey M, Kortan P, Haber G, Ross C, Tzountzouris J, Steele L, Ray PN, Tsui LC, Durie PR
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.
Hum Genet. 2005 Dec;118(3-4):372-81. Epub 2005 Sep 29., [PubMed]

Sentences

No. Mutations Sentence Comment

80 ABCC7 p.Arg117His ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg Of the 50 random blood donors, none carried two mutations and 11 (22%) had mutations, with an allelic frequency of 11%, as follows: R117H in one blood donor, 1716A fi G in two, R75Q in two, and S1235R in one. Login to comment 85 ABCC7 p.Leu206Trp ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Arg170His ABCC7 p.Leu967Ser Sex Type of pancreatitis Age, years CFTR genotype TG repeata Sweat chloride, mmol/lb NTPD DClÀ free+ Iso, mVc Normal Borderline Abnormal Normal Abnormal 1 F Chronic 19 F508deld /L206W 63 Not done 2 M Acute 16 F508deld /R117H(7T)d 10 60 5.0 3 F Chronic 43 F508deld /L967S 46 À2.5 4 F Acute 16 W1282Xd /5T 12 38 1.0 5 F Acute 10 F508deld /D1152H 33 17.0 6 F Chronic 19 5T/5T 11/11 6 15.0 7 F Chronic 33 F508deld /À 69 7.4 8 M Chronic 25 F508deld /À 54 7.0 9 M Chronic 15 F508deld /À 33 14.0 10 F Chronic 33 F508deld /À 26 7.0 11 M Chronic 12 F508deld /À 24 6.0 12 M Chronic 21 2183AA fi G/À 124 Not done 13 F Acute 19 5T/À 11 71 11.0 14 M Chronic 71 5T/À 11 39 19.0 15 F Chronic 38 5T/À 11 20 30.0 16 F Chronic 21 5T/À 11 18 Not done 17 F Chronic 17 5T/À 11 17 Not done 18 F Chronic 26 5T/À No DNA 12 38.0 19 F Chronic 45 5T/À 11 5 34.0 20 F Chronic 40 R75Q/À 32 16.0 21 F Chronic 11 S1235R/À 31 46.0 22 F Acute 1 R170H/À 19 Not done 23 F Acute 14 1716G fi A/À 14 26.0 24 F Chronic 23 1716G fi A/À 12 12.0 25 M Acute 8 À/À 51 15.0 26 M Chronic 67 À/À 46 11.0 27 M Acute 13 À/À 44 36.0 28 F Acute 28 À/À 35 3.0 29 F Chronic 21 À/À 22 6.0 TG12. Login to comment 90 ABCC7 p.Arg117His ABCC7 p.Arg117His If screening were limited to 27 mutations recommended for diagnostic testing by the American College of Genetics or the American College of Obstetrics and Gynecology (Gilbert 2001), only one mutation in the control group (R117H) and two mutations in patients with pancreatitis (F508del and R117H) would have been detected. Login to comment