1995
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Baldwin C, Weiss S, Farrer L, De Stefano A, Adair R, Franklyn B, Kidd K, Korostishevsky M, Bonné-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human Molecular Genetics 1995, 4: 1637-1642. PMID: 8541853, DOI: 10.1093/hmg/4.9.1637.Peer-Reviewed Original ResearchMeSH KeywordsCell LineChromosomes, Human, Pair 7DeafnessEthnicityFemaleGenes, RecessiveGenetic HeterogeneityGenetic LinkageHumansMaleMiddle EastPedigreeConceptsHuman chromosome 7q31Genetic linkage analysisNon-syndromic deafnessChromosomal locationGene locationNon-syndromic formsRecessive non-syndromic deafnessLinkage analysisChromosome 7q31Nonallelic mutationsGenetic isolateLarge familyLOD scoreGenetic heterogeneityGenetic causeRecessive deafnessGenesRecognizable phenotypeFirst evidenceDruze familyFamilyAffected individualsSpecific patternsMutationsPhenotype
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