2001
Haplotype Variation and Linkage Disequilibrium in 313 Human Genes
Stephens J, Schneider J, Tanguay D, Choi J, Acharya T, Stanley S, Jiang R, Messer C, Chew A, Han J, Duan J, Carr J, Lee M, Koshy B, Kumar A, Zhang G, Newell W, Windemuth A, Xu C, Kalbfleisch T, Shaner S, Arnold K, Schulz V, Drysdale C, Nandabalan K, Judson R, Ruaño G, Vovis G. Haplotype Variation and Linkage Disequilibrium in 313 Human Genes. Science 2001, 293: 489-493. PMID: 11452081, DOI: 10.1126/science.1059431.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPairs of SNPsLinkage disequilibriumVariable single nucleotide polymorphismsPatterns of variationIndividual single nucleotide polymorphismsHaplotype variationBiological traitsHuman genesDiverse ancestryDifferent haplotypesGenesNucleotide polymorphismsHuman populationUnrelated individualsHaplotypesRecent expansionPopulation frequencyDisequilibriumTraitsAncestryImportant implicationsInformation contentPolymorphismPopulation
2000
Worldwide Genetic Analysis of the CFTR Region
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd J, Pakstis A, Kidd K, Bertranpetit J. Worldwide Genetic Analysis of the CFTR Region. American Journal Of Human Genetics 2000, 68: 103-117. PMID: 11104661, PMCID: PMC1234903, DOI: 10.1086/316940.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) geneShort tandem repeat polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumHaplotype backgroundTransmembrane conductance regulator geneWorldwide population samplesModern human populationsHaplotype variationHigh heterozygosityCFTR regionOut of AfricaRegulator geneSevere genetic disorderGenetic analysisMutation rateDifferent haplotypesAncestral haplotypeAllele sizeOutcome of differencesSNP haplotypesLD analysisNon-AfricansHaplotypesLD measuresSequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence
Hoehe M, Köpke K, Wendel B, Rohde K, Flachmeier C, Kidd K, Berrettini W, Church G. Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence. Human Molecular Genetics 2000, 9: 2895-2908. PMID: 11092766, DOI: 10.1093/hmg/9.19.2895.Peer-Reviewed Original ResearchConceptsComplex genotype-phenotype relationshipsGenotype-phenotype relationshipsCandidate genesSequence variabilitySequence variantsGene sequence informationDNA sequence variationCandidate gene analysisSpecific sequence variantsPrime candidate geneCombination of variantsSequence comparisonSequence variationSequence informationHuman mu-opioid receptor geneDifferent haplotypesGene analysisGenesComplex diseasesReceptor geneOpioid receptor geneHaplotypesGene variationMultiple individualsModel system
1998
Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency
Li P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.Peer-Reviewed Original ResearchConceptsCommon mutationsSingle nucleotide polymorphismsPolymorphism lociDifferent allelic distributionFurther haplotype analysisDifferent haplotypesNucleotide polymorphismsMutationsDNA samplesAllelic associationPossible allelic associationLociHaplotype analysisAllelic distributionHaplotypesDehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiencyFingerprinting method
1996
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.
Gallagher PG, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG. Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. American Journal Of Human Genetics 1996, 59: 351-9. PMID: 8755921, PMCID: PMC1914747.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnemia, Hemolytic, CongenitalAsianAsian PeopleBase SequenceBiological EvolutionBlack PeopleElliptocytosis, HereditaryErythrocytes, AbnormalHaplotypesHumansModels, GeneticMolecular Sequence DataMutagenesis, InsertionalPolymorphism, GeneticPrevalenceRepetitive Sequences, Nucleic AcidSpectrinUnited StatesWhite PeopleConceptsAlpha-spectrin geneAmino acid sequenceAcid sequenceHereditary elliptocytosisAlpha-spectrin chainHereditary pyropoikilocytosisPrincipal structural proteinErythrocyte membrane skeletonSingle nucleotide substitutionEvolutionary originLimited tryptic digestionMembrane skeletonMolecular basisGenomic DNANucleotide substitutionsStructural proteinsAlpha-spectrinDifferent haplotypesFounder effectGenesLinkage disequilibriumOnly haplotypeSpectrin proteinsCommon haplotypeTryptic digestion
1993
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene
Lichter J, Barr C, Kennedy J, Van Tol H, Kidd K, Livak K. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Human Molecular Genetics 1993, 2: 767-773. PMID: 8353495, DOI: 10.1093/hmg/2.6.767.Peer-Reviewed Original ResearchConceptsHuman dopamine receptor D4 geneAmino acid sequenceThird cytoplasmic loopNumber of repeatsPutative third cytoplasmic loopFunctional proteinsCytoplasmic loopAcid sequenceRepeat regionDifferent repeatsHypervariable segmentDifferent haplotypesRepeatsDopamine receptor D4 geneUnrelated chromosomesNovel polymorphismsD4 geneGenesProteinHuman dopamine D4 receptorPolymorphic variantsSequencePolymorphismChromosomesReceptors
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