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PMID: 17238030
Naruse S, Fujiki K, Ishiguro H
Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
J Gastroenterol. 2007 Jan;42 Suppl 17:60-5.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
43
ABCC7 p.Arg1453Trp
X
ABCC7 p.Arg1453Trp 17238030:43:193
status:
NEW
view ABCC7 p.Arg1453Trp details
ABCC7 p.Gln1352His
X
ABCC7 p.Gln1352His 17238030:43:182
status:
NEW
view ABCC7 p.Gln1352His details
In an initial screening study, common CF-causing mutations were not identified in either patients with chronic pancreatitis or control subjects.28 However, non-CF causing mutations (
Q1352H
and
R1453W
) are highly associated with chronic pancreatitis.
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44
ABCC7 p.Gln1352His
X
ABCC7 p.Gln1352His 17238030:44:140
status:
NEW
view ABCC7 p.Gln1352His details
Furthermore, these mutations are on the same allele as the M470V variant, which has low (~60%) intrinsic chloride channel activities.29 The
Q1352H
mutation in the M470 background causes a 60%-80% reduction in CFTR-dependent Cl- currents and completely abolishes them in the M470V variant.30 Therefore, as in whites, CFTR mutations/polymorphisms are likely to be associated with chronic pancreatitis in Japanese, although mutations may differ depending on ethnic origins.
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58
ABCC7 p.Arg1453Trp
X
ABCC7 p.Arg1453Trp 17238030:58:34
status:
NEW
view ABCC7 p.Arg1453Trp details
His genetic analysis revealed the
R1453W
mutation in the CFTR gene but none in the PSTI gene.
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