2013
Worldwide Population Variation and Haplotype Analysis at the Serotonin Transporter Gene SLC6A4 and Implications for Association Studies
Murdoch JD, Speed WC, Pakstis AJ, Heffelfinger CE, Kidd KK. Worldwide Population Variation and Haplotype Analysis at the Serotonin Transporter Gene SLC6A4 and Implications for Association Studies. Biological Psychiatry 2013, 74: 879-889. PMID: 23510579, DOI: 10.1016/j.biopsych.2013.02.006.Peer-Reviewed Original ResearchConceptsVariable number tandem repeatSingle nucleotide polymorphismsFunctional single nucleotide polymorphismsPromoter variable number tandem repeatRestricted distributionAssociation studiesRare allelesPutative functional single nucleotide polymorphismsPossible functional variationPopulation-specific distributionWide geographic distributionAlleles of interestHealth-related phenotypesAdditional single nucleotide polymorphismsPopulation variationSerotonin transporter gene SLC6A4Transporter geneFunctional variationTandem repeatsNumber tandem repeatSNP rs25531Extent of variationGeographic distributionNucleotide polymorphismsHaplotype background
1994
Detection of DNA sequence variation via deliberate heteroduplex formation from genomic DNAs amplified en masse in "population tubes".
Ruano G, Deinard A, Tishkoff S, Kidd K. Detection of DNA sequence variation via deliberate heteroduplex formation from genomic DNAs amplified en masse in "population tubes". Genome Research 1994, 3: 225-231. PMID: 8173512, DOI: 10.1101/gr.3.4.225.Peer-Reviewed Original ResearchConceptsDNA sequence variationSequence variationGenomic DNAGlucose-6-phosphate dehydrogenase geneX chromosome lociWide geographic distributionLarge-scale samplingLong intronsDehydrogenase geneAllelic variationHeteroduplex moleculesGeographic distributionAllelic variantsHeteroduplex formationChimpanzee samplesHuman populationGradient electrophoresisRare variantsDNAGradient gelsHeteroduplexesElectrophoresisIntronsGenesLoci