Genetic homogeneity of cystic fibrosis

Klinger, Katherine W.; Stanislovitis, P; Hoffman, N; Watkins, Paul C.; Schwartz, Robert H.; Doherty, Richard A.; Scambler, Peter J.; Farrall, Martin; Williamson, Robert; Wainwright, Brandon

doi:10.1093/nar/14.21.8681

Cited by 11 publications

(2 citation statements)

References 12 publications

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“…Seventeen two-generation nuclear families each with two (11 families) or three (6 families) affected children were also used in the linkage analysis. The establishment in these families of linkage between the loci and markers COLIA2, EPO (erythropoietin), PON, D7S8, MET, and CF has been reported (28,37,38).…”

mentioning

confidence: 99%

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

Klinger

Winqvist

Riccio

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

119

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The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAII) was determined by three independent methods of gene mapping. PAII was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAIl cDNA probe and in situ hybridization, respectively. We identified a frequent HindIII restriction fragment length polymorphism (RFLP) of the PAIl gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAII and the loci for erythropoietin (EPO

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mentioning

confidence: 99%

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

Klinger

Winqvist

Riccio

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

119

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“…Discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which when mutated causes cystic fibrosis, is one classical example in that regard. It took years and many different laboratories to map, clone and finally sequence the gene (Beaudet et al, 1989, Duncan et al, 1988, Eiberg et al, 1985, Estivill et al, 1987, Kerem et al, 1989, Klinger et al, 1986, Knowlton et al, 1985, Mayo et al, 1980, Riordan et al, 1989, Rommens et al, 1989, Scambler et al, 1985, Tsui et al, 1985, Wainwright et al, 1986, Wainwright et al, 1985, Watkins et al, 1986, Zielenski et al, 1991) before the information became available for routine patient care. Upon completion of the human genome project with the resultant public dissemination of vast amounts of generated data, it became possible to imagine interrogating tens of thousands of genes for mutation detection or gene expression at the same time in an individual laboratory.…”

Section: Technologiesmentioning

confidence: 99%

Incorporate gene signature profiling into routine molecular testing

Chen

2013

Applied & Translational Genomics

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The success of gene and gene expression profiling, such as the Oncotype DX® test for breast cancer patients, demonstrates that as technology becomes more sophisticated molecular diagnostics will continue to play a more important role in disease management in the future. Such promises have been and continue to be enabled by advances in real-time PCR, microarray detection platforms and next generation sequencing technologies. Practical adoption of new technologies into routine clinical care, however, has not always been a smooth ride. Challenges lie on several fronts: establishment of clinical validity in large scale patient population, mechanisms of incorporating molecular tests into standard care, and keeping up with the pace of ever changing technologies in regulated clinical laboratories, just to name a few. This review's goals are to educate, to stimulate discussion and to provoke efforts to build consensus, share resources, and establish standards in order to realize the promises of genomic technologies for routine patient care.

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Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7

Berger¹,

Hein

Gedschold

et al. 1987

Hum Genet

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We have followed the segregation of the probes pJ3.11, 7C22, pB79a, and MET through cystic fibrosis families in the German Democratic Republic with two affected sibs. Two families with a crossover between MET and the CF phenotype were detected. In one of these families recombination was also observed between the DNA probe 7C22 and CF, and between the markers XV-2c and CF, which suggests that XV-2c, MET and 7C22 are all on the same side of CF. The other MET recombinant family is informative with XV-2c and does not recombine, which excludes the genetic order XV-2c--MET--CF if multiple recombinant events are disregarded. These two families together demonstrate that recombinations may occur in a very small genetic interval, which has important implications for prenatal diagnosis based on data from linked markers.

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Genetic homogeneity of cystic fibrosis

Cited by 11 publications

References 12 publications

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

Incorporate gene signature profiling into routine molecular testing

Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7

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