Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry

Human Mutation

Volumn 20, Issue 1, 2002, Pages 57-64

  Werner, Monika ^a   Sych, Michael ^b   Herbon, Nicole ^a   Illig, Thomas ^a   König, Inke R ^c   Wjst, Matthias ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Allele frequency; DDR1; DNAH8; Genotyping; HLA DMA; HLA DQB1; MALDI TOF; Mass spectroscopy; MOCS1; Pooling; PPP1R10; SNP

Indexed keywords

DNA;

ACCURACY; ALLELE; ARTICLE; CONTROLLED STUDY; COST; DISEASE ASSOCIATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENOME; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RELIABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

DNA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 0036301060     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10094     Document Type: Article

References (44)

1. Extent and distribution of linkage disequilibrium in three genomic regions
2. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
3. Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: Studies of the HLA class II loci
4. Association mapping of disease loci, by use of a pooled DNA genomic screen
5. PCR bias toward the wild-type k-ras and p53 sequences: Implications for PCR detection of mutations and cancer diagnosis
6. High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry: Practice, problems and promise
7. Determining SNP allele frequencies in DNA pools
8. High-throughput development and characterization of a genome wide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
9. Characterization of single-nucleotide polymorphisms in coding regions of human genes
10. Population genetics: Making sense out of sequence
11. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
12. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families
13. A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies
14. Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22
15. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
16. Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography
17. Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations
18. Multiplex genotyping of PCR products with MassTag-labeled primers
19. Linkage of inflammatory bowel disease to human chromosome 6p
20. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools
21. Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes
22. Initial sequencing and analysis of the human genome
23. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
24. Pooled genotyping of microsatellite markers in parent-offspring trios
25. Prospects for whole-genome linkage disequilibrium mapping of common disease genes
26. The new genomics: Global views of biology
27. Setting up a large scale association study across a region linked to bipolar affective disorder
28. Detection of RET proto-oncogene codon 634 mutations using mass spectrometry
29. Identification of apolipoprotein E polymorphisms using temperature cycled primer oligo base extension and mass spectrometry
30. Linkage disequilibrium in the human genome
31. On the allelic spectrum of human disease
32. The future of genetic studies of complex human diseases
33. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling
34. Searching for genes in complex diseases: Lessons from systemic lupus erythematosus
35. Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry
36. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA
37. From genotypes to genes: Doubling the sample size
38. Do large molecules ionize?
39. Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes
40. Haplotype variation and linkage disequilibrium in 313 human genes
41. Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis
42. The sequence of the human genome
43. High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)
44. Quantitative detection of single nucleotide polymorphisms for a pooled sample by a bioluminometric assay coupled with modified primer extension reactions (BAMPER)