ArticleAmerican journal of human genetics1993
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 74 citations in OpenAlex.
- Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population.Human genetics · 2005Article
- Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease.Genes and immunity · 2003Article
- A haplotype-based algorithm for multilocus linkage disequilibrium mapping of quantitative trait loci with epistasis.Genetics · 2003Article
- Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.American journal of human genetics · 2002Article
- Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels.American journal of human genetics · 2001Article
- An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.American journal of human genetics · 2000Article
- Family-based linkage disequilibrium mapping using SNP marker haplotypes: application to a potential locus for schizophrenia at chromosome 22q11.Molecular psychiatry · 2000Article
- Effects of worldwide population subdivision on ALDH2 linkage disequilibrium.Genome research · 1999Article
- Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.American journal of human genetics · 1999Article
- Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Journal of medical genetics · 1998Article
- Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.American journal of human genetics · 1997Article
- Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.Journal of medical genetics · 1997Article
- Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.Journal of medical genetics · 1996Article
- Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.American journal of human genetics · 1996Article
- Somatic mosaicism in a patient with neurofibromatosis type 1.American journal of human genetics · 1996Article
- A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE).Human genetics · 1996Article
- Molecular genetics of neurofibromatosis type 1 (NF1).Journal of medical genetics · 1996Review
- Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.Journal of medical genetics · 1996Article
- Discordant patterns of linkage disequilibrium of the peptide-transporter loci within the HLA class II region.American journal of human genetics · 1995Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
To test the usefulness of linkage disequilibrium for gene mapping, we compared physical distances and linkage disequilibrium among eight RFLPs in the neurofibromatosis 1 (NF1) region. Seven of the polymorphisms span most of the NF1 gene, while the remaining polymorphism lies approximately 70 kb 3' to a stop codon in exon 49. By using Centre d'Etude du Polymorphisme Humain (CEPH) kindreds, 91-110 unrelated parents were genotyped. A high degree of disequilibrium is maintained among the seven intragenic polymorphisms (r > .82, P < 10(-7)), even though they are separated by as much as 340 kb. The 3' polymorphism is only 68 kb distal to the next polymorphism, but disequilibrium between the 3' polymorphism and all others is comparatively low (magnitude of 4 < .33, P values .27-.001). This result was replicated in three sets of unrelated kindreds: the Utah CEPH families, the non-Utah CEPH families, and an independent set of NF1 families. Trigenic, quadrigenic, three-locus, and four-locus disequilibrium measures were also estimated. There was little evidence of higher-order linkage disequilibrium. As expected for a disease with multiple mutations, no disequilibrium was observed between the disease gene and any of the RFLPs. The observed pattern of high disequilibrium within the gene and a loss of disequilibrium 3' to the stop codon could have implications for gene mapping studies. These are discussed, and guidelines for linkage disequilibrium studies are suggested.
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