Document Detail


A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.
MedLine Citation:
PMID:  8641707     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The factor XII gene from factor XII-deficient patients was screened for mutations at the genomic level. In patients negative for cross-reacting material, a T to C transition 224 bp upstream of exon 3 was identified (exon 3-224 (T --> C)) that creates an additional TaqI restriction site in intron B. This mutation is located within a putative hormone responsive element and within a B box promoter of an Alu repeat of the Sb0 family. The TaqI site is associated with a G to C transversion upstream of the transcription initiation site (exon 1-8 (G --> C)). We discuss the possible roles of these elements in factor XII gene regulation.
Authors:
S Hofferbert; J Müller; H Köstering; W D von Ohlen; M Schloesser
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  97     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-07-12     Completed Date:  1996-07-12     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  838-41     Citation Subset:  IM    
Affiliation:
Institut für Humangenetik, Universität Göttingen, Germany.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/U71274;  U71275;  U71276;  U71277;  U71278;  X80392;  X80393
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Deoxyribonucleases, Type II Site-Specific
Exons / genetics
Factor XII / genetics*
Factor XII Deficiency / genetics*
Female
Humans
Introns / genetics
Male
Middle Aged
Molecular Sequence Data
Pedigree
Point Mutation / genetics*
Polymerase Chain Reaction / methods
Polymorphism, Restriction Fragment Length*
Promoter Regions, Genetic / genetics
Repetitive Sequences, Nucleic Acid / genetics*
Chemical
Reg. No./Substance:
9001-30-3/Factor XII; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific; EC 3.1.21.4/TCGA-specific type II deoxyribonucleases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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