1995
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Takiyama Y, Igasrashi S, Rogaeva E, Endo K, Rogaev E, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy J, Lang A, Wherrett J, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd K, Tsuji S, St George-Hyslop P. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Human Molecular Genetics 1995, 4: 1137-1146. PMID: 8528200, DOI: 10.1093/hmg/4.7.1137.Peer-Reviewed Original ResearchAge of OnsetAllelesAsian PeopleAtaxin-3Base SequenceConserved SequenceFemaleGenetics, PopulationHaplotypesHomozygoteHumansJapanMachado-Joseph DiseaseMaleMeiosisMolecular Sequence DataNerve Tissue ProteinsNuclear ProteinsPedigreePhenotypePolymorphism, GeneticProteinsRepetitive Sequences, Nucleic AcidRepressor ProteinsWhite People
1988
The human “interferon-β2/hepatocyte stimulating factor/interleukin-6” gene: DNA polymorphism studies and localization to chromosome 7p21
Bowcock A, Kidd J, Lathrop G, Daneshvar L, May L, Ray A, Sehgal P, Kidd K, Cavalli-Sforza L. The human “interferon-β2/hepatocyte stimulating factor/interleukin-6” gene: DNA polymorphism studies and localization to chromosome 7p21. Genomics 1988, 3: 8-16. PMID: 2906047, DOI: 10.1016/0888-7543(88)90152-8.Peer-Reviewed Original ResearchConceptsHybridoma growth factorChromosome 7 markersPolymorphic MspI siteDNA polymorphism studiesBase pair substitutionsDNA replicationDNA insertionFifth exonGene productsProtein responseEnzyme MspIAT dinucleotidesVariety of haplotypesBglI polymorphismFactor/interleukinGenesLinkage disequilibriumMspI sitePolymorphic sitesPair substitutionsMspILinkage studiesFactor 2Polymorphism studiesKb