{"doi":"10.1007/bf00218843","title":"Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)","abstract":null,"journal":"Human Genetics","year":1996,"id":620263,"datarank":0.515098080672772,"base_score":3.4339872044851463,"endowment":3.4339872044851463,"self_citation_contribution":0.515098080672772,"citation_network_contribution":0.0,"self_endowment_contribution":0.515098080672772,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":30,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1601166,"name":"Anne Marie Jouanolle","orcid":null,"position":1,"is_corresponding":false},{"id":1601167,"name":"Bruno Chauvel","orcid":null,"position":2,"is_corresponding":false},{"id":1601168,"name":"Valérie Mauvieux","orcid":null,"position":3,"is_corresponding":false},{"id":169989,"name":"André Le Treut","orcid":null,"position":4,"is_corresponding":false},{"id":1601169,"name":"Josué Feingold","orcid":null,"position":5,"is_corresponding":false},{"id":1601170,"name":"Jean Yves Le Gall","orcid":null,"position":6,"is_corresponding":false},{"id":1601171,"name":"Véronique David","orcid":null,"position":7,"is_corresponding":false},{"id":95152,"name":"Jacqueline Yaouanq","orcid":null,"position":8,"is_corresponding":false},{"id":1601165,"name":"Gwenola Gandon","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)","abstract":"The hemochromatosis gene (HFE) maps to 6p21.3, in close linkage with the HLA Class I genes. Linkage disequilibrium (LD) studies were designed to narrow down the most likely candidate region for HFE, as an alternative to traditional linkage analysis. However, both the HLA-A and D6S105 subregions, which are situated 2-3 cM and approximately 3 Mb apart, have been suggested to contain HFE. The present report extends our previous study based upon the analysis of a large number of HFE and normal chromosomes from 66 families of Breton ancestry. In addition to the previously used RFLP markers spanning the 400-kb surrounding HLA-A, we examined three microsatellites: D6S510, HLA-F, and D6S105. Our combined data not only confirm a peak of LD at D6S105, but also reveal a complex pattern of LD over the i82 to D6S105 interval. Within our ethnically well-defined population of Brittany, the association of HFE with D6S105 is as great as that with HLA-A, while the internal markers display a lower LD. Fine haplotype analysis enabled us to identify two categories of haplotypes segregating with HFE. In contrast to the vast majority of normal haplotypes, 50% of HFE haplotypes are completely conserved over the HLA-A to D6S105 interval. These haplotypes could have been conserved through recombination suppression, selective forces and/or other evolutionary factors. This particular haplotypic configuration might account for the apparent inconsistencies between genetic linkage and LD data, and additionally greatly complicates positional cloning of HFE through disequilibrium mapping.","is_dataset_classified":null,"base_score":3.4339872044851463,"endowment":3.4339872044851463,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"8557248","pmcid":null,"openalex_id":"https://openalex.org/W2020844623","authors":[],"funders":[],"total_grants":0,"fwci":6.4526,"citation_percentile":0.97080938,"influential_citations":0,"citation_trend":[{"year":2015,"count":1}],"oa_status":"closed","license":"http://www.springer.com/tdm","oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/BF00218843.pdf","host_type":"publisher"},{"url":"http://link.springer.com/article/10.1007/BF00218843/fulltext.html","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1007/BF00218843","host_type":"publisher"},{"url":"https://doi.org/10.1007/bf00218843","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/8557248","host_type":"repository"}],"fields_of_study":["Hemoglobinopathies and Related Disorders","Iron Metabolism and Disorders","Oral and gingival health research"],"mesh_terms":["Base Sequence","Chromosome Mapping","Chromosomes, Human, Pair 6","Family","Female","Genes, MHC Class I","Genetic Markers","Haplotypes","Hemochromatosis","Humans","Male","Molecular Sequence Data","Pedigree","Polymorphism, Genetic","HLA-A Antigens","HLA-B Antigens","Linkage Disequilibrium","Polymerase Chain Reaction","DNA Primers"],"keywords":["Linkage disequilibrium","Haplotype","Genetics","Biology","Positional cloning","Genetic linkage","Hereditary hemochromatosis","Gene mapping","Human leukocyte antigen","Hemochromatosis","Population","Restriction fragment length polymorphism","Genetic association","Allele","Gene","Genotype","Single-nucleotide polymorphism","Locus (genetics)","Chromosome"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T10:33:07.383063Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}