ArticleHuman genetics1990
New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.
Article in Human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 20 citations in OpenAlex.
- Germline and somatic mosaicism in a female carrier of Hunter disease.Journal of medical genetics · 1997Article
- Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.Human genetics · 1993Article
- X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.American journal of 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
- Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).American journal of human genetics · 1991Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The polymorphic DNA marker DXS304 detected by probe U6.2 has recently been shown to be closer to the fragile X locus than previously available markers. Its usefulness has however been limited by its relatively low heterozygosity. We have isolated, by cosmid cloning, a 67 kilobase region around probe U6.2 and have characterized a new probe (U6.2-20E) that detects BanI and BstEII restriction fragment length polymorphisms (RFLPs). The BanI RFLP has a heterozygosity of 0.49 and is in partial linkage disequilibrium with the previously described polymorphism, with a combined heterozygosity of 0.63. Furthermore, we have found that the U6.2 original probe, which probably detects an insertion-deletion polymorphism, is also informative in BanI digests. Thus, the two informative RFLPs at the DXS304 locus can be conveniently tested in a single hybridization with a single digest. An updated linkage analysis confirms that DXS304 is distal to the fragile X locus. This informative locus can now be used effectively for genetic mapping of the Xq27-q28 region, and for diagnostic applications in fragile X or Hunter syndrome families.
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