Direct Analysis of Single Nucleotide Variation in Human DNA and RNA Using In Situ Dot Hybridization
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Summary
Using oligonucleotide hybridization, single and multiple nucleotide differences between alleles were detected directly in genomic DNA without electrophoretic separation, possible applications of this methodology include genetic disease diagnosis, population carrier screening, HLA "DNA" typing, and DNA and RNA sequence polymorphism analysis.
- Type
- article
- Published
- 1989-03-01
- Cited by
- 18
- References
- 34
- OpenAlex
- https://openalex.org/W1965872676
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:25958188
Keywords
Oligonucleotide, Molecular biology, Biology, genomic DNA, DNA
References
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- Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.
- A closely linked genetic marker for cystic fibrosis
- Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.
- Direct cloning and sequence analysis of enzymatically amplified genomic sequences.
- Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.
- Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.
- The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit beta-globin DNA.
- Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
- Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis.
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.
- A sensitive new prenatal test for sickle-cell anemia.
- The binding of small cations to deoxyribonucleic acid. Nucleotide specificity.
- Further evidence for a post-translational phenomenon in the interaction of alpha-thalassemia with sickle cell trait.
- Modification of the melting properties of duplex DNA by attachment of a GC-rich DNA sequence as determined by denaturing gradient gel electrophoresis.
Cited by
- A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
- Oligonucleotide Arrays: New Concepts and Possibilities
- A sensitive, quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide.
- The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation.
- MOLECULAR ANALYSIS OF BETA THALASSEMIA IN IRAN
- Genotyping of the Human Lipoprotein Lipase Gene by Ferrocenylnaphthalene Diimide-based Electrochemical Hybridization Assay
- Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
- A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
- Differential PCR and DNA microarrays: the modern era of nutritional investigations.
- Accessing genomic information: alternatives to PCR.
- A genome-wide scalable SNP genotyping assay using microarray technology
- A novel method of identifying genetic mutations using an electrochemical DNA array.
- In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.
- Positional cloning of a novel Fanconi anemia gene, FANCD2.
- Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I
- Use of the polymerase chain reaction mismatch technique to identify the HLA-DQw8 allele in patients with insulin-dependent diabetes mellitus.
- Pharmacogenetic Testing
- The Molecular Pathology of Non-Malignant Haematological Disease
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