ArticleAmerican journal of human genetics1991
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed.
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- Characterization of the transcription factor Sox3 regulating the gonadal development of pearlscale angelfish (Centropyge vrolikii).Fish physiology and biochemistry · 2022Article
- Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis.Developmental biology · 2011Article
- Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors.The international journal of biochemistry & cell biology · 2007Review
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.American journal of human genetics · 2002Article
- Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.Journal of medical genetics · 1998Article
- DXS539, a polymorphic DNA marker proximal of the fragile-X gene.Human genetics · 1993Article
- Linkage to Xq28 in a family with nonspecific X-linked mental retardation.Human genetics · 1992Article
- Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.American journal of human genetics · 1992Article
- The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.Chromosoma · 1992Review
- Completion of the physical map of Xq28: the location of the gene for L1CAM on the human X chromosome.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Article
- Long-range walking techniques in positional cloning strategies.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Review
- Molecular analysis of the fragile X syndrome.Journal of inherited metabolic disease · 1992Review
- Genotype prediction in the fragile X syndrome.Journal of medical genetics · 1991Article
- Physical map of human Xq27-qter: localizing the region of the fragile X mutation.Proceedings of the National Academy of Sciences of the United States of America · 1991Article
- Isolation of a human DNA sequence which spans the fragile X.American journal of human genetics · 1991Article
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
We report the validation and use of a cell hybrid panel which allowed us a rapid physical localization of new DNA probes in the vicinity of the fragile-X locus (FRAXA). Seven regions are defined by this panel, two of which lie between DXS369 and DXS296, until now the closest genetic markers that flank FRAXA. Of those two interesting regions, one is just distal to DXS369 and defined by probe 2-71 (DXS476), which is not polymorphic. The next one contains probes St677 (DXS463) and 2-34 (DXS477), which are within 130 kb and both detect TaqI RFLPs. The combined informativeness of these two probes is 30%. We cloned from an irradiation-reduced hybrid line another new polymorphic probe, Do33 (DXS465; 42% heterozygosity). This probe maps to the DXS296 region, proximal to a chromosomal breakpoint that corresponds to the Hunter syndrome locus (IDS). The physical order is thus Cen-DXS369-DXS476-(DXS463,DXS477)-(DXS296, DXS465)-IDS-DXS304-tel. We performed a linkage analysis for five of these markers in both the Centre d'Etude du Polymorphisme Humain families and in a large set of fragile-X families. This establishes that DXS296 is distal to FRAXA. The relative position of DXS463 and DXS477 with respect to FRAXA remains uncertain, but our results place them genetically halfway between DXS369 and DXS304. Thus the DXS463-DXS477 cluster defines presently either the closest proximal or the closest distal polymorphic marker with respect to FRAXA. The three new polymorphic probes described here have a combined heterozygosity of 60% and represent a major improvement for genetic analysis of fragile-X families, in particular for diagnostic applications.
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