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PMID: 2726481 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Nucleic acids research ·Vol. 17 ·No. 9 ·1989-05-11 ·Pages 3347-58

Montandon AJ, Green PM, Giannelli F, Bentley DR

Abstract

Rapid detection of point mutations in genomic DNA has been achieved by chemical mismatch analysis of heteroduplexes formed between amplified wild-type and target sequences in the human factor IX gene. Amplification and mismatch detection (AMD) analysis of DNA from relatives of haemophilia B patients permitted carrier diagnosis by direct identification of the presence or absence of the mutation in all cases, thus eliminating the need for the informative segregation of polymorphic markers. This extends diagnostic capability to virtually all haemophilia B families. AMD analysis permits detection of all sequence variations in genomic DNA and is therefore applicable to direct diagnosis of X-linked and autosomal diseases and for identification of new polymorphisms for genetic mapping.

MeSH Terms
Amino Acid Sequence Animals Base Composition Base Sequence Cattle DNA/genetics Factor IX/genetics Factor VII/genetics Factor X/genetics Genes Genetic Carrier Screening Hemophilia A/genetics Humans Molecular Sequence Data Mutation Nucleic Acid Heteroduplexes/genetics Oligonucleotide Probes Protein C/genetics Prothrombin/genetics
Chemicals
Nucleic Acid Heteroduplexes Oligonucleotide Probes Protein C Factor VII Prothrombin Factor IX Factor X DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Montandon A J
Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.
Green P M
Giannelli F
Bentley D R
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33 references, click to expand
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/17.9.3347
Published
1989-05-11
Pages
3347-58
Language
English
Region
England
NLM ID
0411011
PMCID
PMC317779
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/17.9.3347 PMC Full Text View journal details
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