ArticleHuman genetics1989
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.
Article in Human genetics, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed.
- Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.Human genetics · 1993Article
- Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.Human genetics · 1992Article
- Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.American journal of human genetics · 1991Article
- Defining DNA diagnostic tests appropriate or standard clinical care.American journal of human genetics · 1990Article
- The fragile X: progress toward solving the puzzle.American journal of human genetics · 1990Review
- X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.Journal of medical genetics · 1990Article
- New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.Human genetics · 1990Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A new cloned DNA probe (U6.2), which recognizes polymorphisms near the locus for the fragile-X syndrome, was isolated. No recombinations were observed between the probe and the disease locus, although recombinations were observed with several other probes known to be located close to the fragile site. The locus defined by the probe, DXS304, cosegregated with the fragile-X phenotype in 29 informative meioses (zeta = 4.97, tau = 0.00). The degree of polymorphism at this locus and its proximity to the fragile-X locus makes it useful for carrier diagnosis and as a new starting point for attempts to clone the gene responsible for the disease.
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