A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

Genome Research

Volumn 10, Issue 7, 2000, Pages 1031-1042

  Pastinen, Tomi ^a,d   Raitio, Mirja ^a   Lindroos, Katarina ^a   Tainola, Päivi ^a   Peltonen, Leena ^a,b   Syvänen, Ann Christine ^a,c  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UPPSALA UNIVERSITY   (Sweden)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCENT DYE; NUCLEOTIDE; RNA DIRECTED DNA POLYMERASE;

ALLELE; ARTICLE; CONTROLLED STUDY; GENE ASSIGNMENT; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; METHODOLOGY; MICROSCOPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BACTERIOPHAGE T7; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-DIRECTED RNA POLYMERASES; GENOTYPE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TEMPLATES, GENETIC; VIRAL PROTEINS;

EID: 0033865806     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.10.7.1031     Document Type: Article

References (70)

1. Mutation in the follicle stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
2. Polymorphic DNA region adjacent to the 5' end of the human insulin gene
3. Mutation in blood coagulation factor V associated with resistance to activated protein C
4. HLA-H and associated proteins in patients with hemochromatosis
5. Exploring the new world of the genome with DNA microarrays
6. Characterization of single-nucleotide polymorphisms in coding regions of human genes
7. Genome-wide mapping with biallelic markers in Arabidopsis thaliana
8. Genetic epidemiology of single nucleotide polymorphisms
9. Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides
10. In The Metabolic Basis of Inherited Disease
11. Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays
12. Molecular analysis of aldolase B genes in hereditary fructose intolerance
13. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
14. Sequence analysis by hybridization with oligonucleotide microchip: Identification of B-thalassemia mutations
15. Polymorphism analysis and gene detection by minisequencing on an array of gel-immobilized primers
16. Analysis of gene expression in single live neurons
17. Pharmacogenomics: Translating functional genomics into rational therapeutics
18. Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes
19. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
20. Universal DNA microarray method for multiplex detection of low abundance point mutations
21. Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips
22. Phenylketonuria in a low incidence population: Molecular characterization of mutations in Finland
23. Mutation detection by ligation to complete n-mer DNA arrays
24. Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports
25. Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays
26. Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates
27. Resequencing and mutational analysis using oligonucleotide microarrays
28. Determination of ancesteral alleles for human single nucleotide polymorphisms using high-density oligonucleotide arrays
29. Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene
30. Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
31. Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland
32. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
33. Aspartylglucosaminuria: CDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
34. The International Batten Disease Consortium
35. The transcriptional program in the response of human fibroblasts to serum
36. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
37. Cystic fibrosis in a low-incidence population: Two major mutations in Finland
38. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
39. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
40. Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
41. Smoothing of the thermal stability of DNA duplexes by using modified nucleosides and chaotropic agents
42. Genetic Bit Analysis: A solid phase method for typing single nucleotide polymorphisms
43. Minisequencing: A specific tool for DNA analysis and diagnostics on oligonucleotide arrays
44. Contribution of the CCR5 and MBL genes in susceptibility to HIV-1 infection in Finnish population
45. Light-generated oligonucleotide arrays for rapid DNA sequence analysis
46. Molecular genetics of the Finnish disease heritage
47. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
48. High-throughput polymorphism screening and genotyping with high-density oligonucleotide arrays
49. DNA variation and the future of human genetics
50. A DNA microarray system for analyzing complex DNA samples using two-color fluorescent probe hybridization
51. Mutation detection by solid phase primer extension
52. DNA chips: Analysing sequence by hybridization to oligonucleotides on a large scale
53. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I
54. Chip-based genotyping by mass spectrometry
55. Identification of SLC7A7, encoding y + LAT-1, as the lysinuric protein intolerance gene
56. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
57. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
58. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome