Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.
paper
Cited
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- Authors
- Tsui, L C; Buchwald, M; Barker, D; Braman, J C; Knowlton, R; Schumm, J W; Eiberg, H; Mohr, J; Kennedy, D; Plavsic, N
- Year
- 1985
- Journal
- Science (New York, N.Y.)
- PMID
- 2997931
- DOI
- 10.1126/science.2997931
A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.
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| Exclusion of the Friedreich ataxia gene from chromosome 19. | Chamberlain S et al. | β | 1987 | β |
| Fetal diagnosis of cystic fibrosis. | Brock DJ | β | 1987 | β |
| First-trimester prenatal diagnosis for Huntington's disease with DNA probes. | Hayden MR et al. | β | 1987 | β |
| Further data on linkage between cystic fibrosis and 7C22 (D7S16) | Farrall M et al. | β | 1987 | β |
| Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. | Barker D et al. | β | 1987 | β |
| Genetic analysis of NF1: identification of close flanking markers on chromosome 17. | Fain PR et al. | β | 1987 | β |
| Genetic linkage map of human chromosome 7 with 63 DNA markers. | Barker D et al. | β | 1987 | β |
| Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. | Seizinger BR et al. | β | 1987 | β |
| Human immunoglobulin variable region genes: a new VH sequence used to detect polymorphism. | Turnbull IF et al. | β | 1987 | β |
| Human laminin B1 chain. A multidomain protein with gene (LAMB1) locus in the q22 region of chromosome 7. | Pikkarainen T et al. | β | 1987 | β |
| Isolation of a cDNA clone for the human laminin-B1 chain and its gene localization. | Jaye M et al. | β | 1987 | β |
| Isolation of polymorphic DNA fragments from human chromosome 4. | Gilliam TC et al. | β | 1987 | β |
| Linkage of DNA probe B79a (D7S13) to cystic fibrosis. | Wainwright BJ et al. | β | 1987 | β |
| Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. | Schmidtke J et al. | β | 1987 | β |
| Linkage studies of Friedreich ataxia by means of blood-group and protein markers. | Keats BJ et al. | β | 1987 | β |
| Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17. | Showe LC et al. | β | 1987 | β |
| Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. | Zengerling S et al. | β | 1987 | β |
| Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. | Bowcock AM et al. | β | 1987 | β |
| Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. | Estivill X et al. | β | 1987 | β |
| Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. | Scambler PJ et al. | β | 1987 | β |
| Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis. | Klinger KW et al. | β | 1987 | β |
| Prenatal diagnosis of cystic fibrosis. | Beaudet AL et al. | β | 1987 | β |
| Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis. | Spence JE et al. | β | 1987 | β |
| Psychometric validation of psychiatric diagnoses in the New York High-Risk Study. | Moldin SO et al. | β | 1987 | β |
| Rapid RFLP screening procedure identifies new polymorphisms at albumin and alcohol dehydrogenase loci. | Murray JC et al. | β | 1987 | β |
| Studies of cystic fibrosis in Hutterite families by using linked DNA probes. | Ober C et al. | β | 1987 | β |
| The gene encoding vasoactive intestinal peptide is located on human chromosome 6p21----6qter. | Gozes I et al. | β | 1987 | β |
| The genetic defect causing familial Alzheimer's disease maps on chromosome 21. | St George-Hyslop PH et al. | β | 1987 | β |
| The molecular and biochemical basis of cystic fibrosis. | McPherson MA et al. | β | 1987 | β |
| Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis. | Dean M et al. | β | 1987 | β |
| Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes. | Law HY et al. | β | 1987 | β |
| Variable number of tandem repeat (VNTR) markers for human gene mapping. | Nakamura Y et al. | β | 1987 | β |
| A highly polymorphic locus on chromosome 16q revealed by a probe from a chromosome-specific cosmid library. | Bufton L et al. | β | 1986 | β |
| A linkage study of cystic fibrosis in extended multigenerational pedigrees. | Watkins PC et al. | β | 1986 | β |
| A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. | Wainwright B et al. | β | 1986 | β |
| A polymorphic locus on the long arm of chromosome 20 defined by two probes from a single cosmid. | Litt M et al. | β | 1986 | β |
| Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism. | Law ML et al. | β | 1986 | β |
| Chromosomal localization of a human band 3-like gene to region 7q35----7q36. | Palumbo AP et al. | β | 1986 | β |
| Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13). | Estivill X et al. | β | 1986 | β |
| Consanguinity and heterogeneity: cystic fibrosis need not be homogeneous in Italy. | Lander ES et al. | β | 1986 | β |
| Cystic fibrosis carrier detection using a linked gene probe. | Farrall M et al. | β | 1986 | β |
| Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. | Willard HF et al. | β | 1986 | β |
| Diagnosis of genetic disease using recombinant DNA. | Cooper DN et al. | β | 1986 | β |
| DNA prediction in cystic fibrosis. | Harper PS | β | 1986 | β |
| First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. | Farrall M et al. | β | 1986 | β |
| Further linkage data on cystic fibrosis: the Utah Study. | White R et al. | β | 1986 | β |
| Genetic analysis of cystic fibrosis using linked DNA markers. | Tsui LC et al. | β | 1986 | β |
| Genetic homogeneity of cystic fibrosis. | Klinger K et al. | β | 1986 | β |
| Genetics of cystic fibrosis. | Colten HR | β | 1986 | β |
| Hereditary cataract. Perspective for prenatal screening. | Lubsen NH et al. | β | 1986 | β |
| Homogeneity of cystic fibrosis in Italy. | Vitale E et al. | β | 1986 | β |
| Isolation and characterization of DNA probes from a flow-sorted human chromosome 8 library that detect restriction fragment length polymorphism (RFLP). | Wood S et al. | β | 1986 | β |
| Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. | Scambler PJ et al. | β | 1986 | β |
| Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families. | Naylor SL et al. | β | 1986 | β |
| Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. | Beaudet A et al. | β | 1986 | β |
| Linkage of DNA markers to cystic fibrosis in 26 families. | Spence JE et al. | β | 1986 | β |
| Microdissection of and microcloning from the short arm of human chromosome 2. | Bates GP et al. | β | 1986 | β |
| Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. | Lee EY et al. | β | 1986 | β |
| Pathological regulation of arachidonic acid release in cystic fibrosis: the putative basic defect. | Carlstedt-Duke J et al. | β | 1986 | β |
| Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis. | BouΓ© A et al. | β | 1986 | β |
| Recombinant DNA techniques in the diagnosis of inherited disorders. | Gusella JF | β | 1986 | β |
| Reverse genetics and human disease. | Orkin SH | β | 1986 | β |
| Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms. | Lander ES et al. | β | 1986 | β |
| The facts on cystic fibrosis testing. | Brock DJ et al. | β | 1986 | β |
| The genetics of Alzheimer's disease: a review and a discussion of the implications. | Davies P | β | 1986 | β |
| The search for the cystic fibrosis gene. | White R | β | 1986 | β |