1998
Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution
Malaspina P, Cruciani F, Ciminelli B, Terrenato L, Santolamazza P, Alonso A, Banyko J, Brdicka R, García O, Gaudiano C, Guanti G, Kidd K, Lavinha J, Avila M, Mandich P, Moral P, Qamar R, Mehdi S, Ragusa A, Stefanescu G, Caraghin M, Tyler-Smith C, Scozzari R, Novelletto A. Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution. American Journal Of Human Genetics 1998, 63: 847-860. PMID: 9718330, PMCID: PMC1377388, DOI: 10.1086/301999.Peer-Reviewed Original ResearchConceptsExtant human populationsTotal diversityChromosomal lineagesLength variantsDinucleotide microsatellitesY chromosomeCommon descentPhenetic relationshipsGeographic distributionNorthern AfricaHaplotypesHuman populationLineagesDinucleotide unitsRapid generationDiversityWestern AsiaNetwork analysisChromosomesMicrosatellitesSpecific patternsOptimal markerReliable frequency estimatesMutationsExtinction
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 ResearchConceptsHuman 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