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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
Human mutation, 1998, Vol.11 (4), p.321-327
Höglund, Pia
Haila, Siru
Gustavson, Karl-Henrik
Taipale, Mikko
Hannula, Katariina
Popinska, Kataryna
Holmberg, Christer
Socha, Jerzy
de la Chapelle, Albert
Kere, Juha
1998
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Höglund, Pia
Haila, Siru
Gustavson, Karl-Henrik
Taipale, Mikko
Hannula, Katariina
Popinska, Kataryna
Holmberg, Christer
Socha, Jerzy
de la Chapelle, Albert
Kere, Juha
Titel
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
Ist Teil von
Human mutation, 1998, Vol.11 (4), p.321-327
Ort / Verlag
New York: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
1998
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down‐regulated in adenoma (DRA) gene. A three base pair deletion resulting in the loss of an amino acid valine (V317del) in the predicted CLD/DRA protein was shown to be responsible for all CLD cases in a Finnish founder population. Two additional mutations, H124L and 344delT, were found in Polish CLD patients. Here, we screened for additional mutations in a set of 14 CLD families of Polish, Swedish, North American, and Finnish origin using primers that allowed mutation searches directly from genomic DNA samples. We found eight novel mutations in the CLD/DRA gene. The mutations included two transversions, one transition, one insertion, and four small deletions. Of 11 sequence alterations detected so far, nine lie clustered in three short segments that are 49 bp, 39 bp, and 65 bp in size, respectively. These short segments span only 6.7 % of the total cDNA length, suggesting functional importance or mutation‐prone DNA regions of the corresponding CLD/DRA protein domains. Hum Mutat 11:321–327, 1998. © 1998 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794
eISSN: 1098-1004
DOI: 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A
Titel-ID: cdi_proquest_miscellaneous_79807796
Format
–
Schlagworte
Amino Acid Sequence
,
Animals
,
Antiporters
,
Base Sequence
,
Carrier Proteins - genetics
,
Case-Control Studies
,
Chloride-Bicarbonate Antiporters
,
Chlorides - metabolism
,
clustering of mutations
,
Conserved Sequence
,
deletion mutation
,
Diarrhea - congenital
,
Diarrhea - genetics
,
Diarrhea - metabolism
,
DNA Primers - genetics
,
Female
,
Humans
,
Male
,
Membrane Proteins - genetics
,
missense mutation
,
Molecular Sequence Data
,
Mutation
,
Pedigree
,
Polymerase Chain Reaction
,
Polymorphism, Single-Stranded Conformational
,
premature stop codon
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