Literature DB >> 1968042

New polymorphic DNA marker close to the fragile site FRAXA.

B A Oostra1, P E Hupkes, L F Perdon, C A van Bennekom, E Bakker, D J Halley, M Schmidt, D Du Sart, A Smits, B Wieringa.   

Abstract

DNA from a human-hamster hybrid cell line, 908-K1B17, containing a small terminal portion of the long arm of the human X chromosome as well as the pericentric region of 19q was used as starting material for the isolation of an X-chromosome-specific DNA segment, RN1 (DXS369), which identifies a XmnI RFLP. Linkage analysis in fragile X families resulted in a maximum lod score of 15.3 at a recombination fraction of 0.05 between RN1 and fra(X). Analysis of recombinations around the fra(X) and distal to DXS105. Analysis of the marker content of hybrid cell line 908K1B17 suggests the localization of RN1 between DXS98 and fra(X). Heterozygosity of DXS369 is approximately 50%, which extends the diagnostic potential of RFLP analysis in fragile X families significantly.

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Year:  1990        PMID: 1968042     DOI: 10.1016/0888-7543(90)90457-6

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  14 in total

Review 1.  Long-range walking techniques in positional cloning strategies.

Authors:  L Stubbs
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  New distal marker closely linked to the fragile X locus.

Authors:  T J Hulsebos; B A Oostra; S Broersen; A Smits; B A van Oost; A Westerveld
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

4.  Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors:  J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

5.  Microdissection of the fragile X region.

Authors:  R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

Review 6.  The fragile X: progress toward solving the puzzle.

Authors:  W T Brown
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

7.  Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Authors:  G K Suthers; J C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

8.  Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

Authors:  L Strain; C M Gosden; D J Brock; D T Bonthron
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

9.  Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

Authors:  C Hydén-Granskog; R Salonen; H von Koskull
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

10.  Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Authors:  E Mornet; A Bogyo; C Deluchat; B Simon-Bouy; M Mathieu; F Thépot; M C Grisard; E Leguern; J Boué; A Boué
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

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