Literature DB >> 1673307

New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.

I Oberlé1, A Vincent, N Abbadi, F Rousseau, P E Hupkes, M C Hors-Cayla, S Gilgenkrantz, B A Oostra, J L Mandel.   

Abstract

Recently some of us cloned a new probe RN1 (DXS369), which appears a close marker for the fragile X locus (FRAXA) [Oostra et al.: Genomics 1990]. We present here new evidence for its physical and genetic mapping in the DXS98--FRAXA interval. We used 2 different somatic cell hybrid lines with breakpoints in the Xq27-q28 region: L10B Rea and PeCHN, and we established the order: (DXS105, DXS98)-L10B Rea-DXS369-PeCHN- (DXS304, DXS52). We detected an additional TaqI RFLP at the DXS369 locus which increases its informativeness up to 57%. Two point linkage analysis in a large set of families gave high lod scores for the FRAXA-DXS369 linkage (z(theta) = 10.1 at theta = 0.044) and for DXS369-DXS304, a marker distal to FRAXA (z = 19.2 at theta = 0.070). By multipoint analyses we established the localization of DXS369 in the DXS98-FRAXA interval. DXS369 is a much closer proximal marker for FRAXA than DXS105 or DXS98 and any new probe mapping between the breakpoints in L10B Rea and PeCHN will be of potential interest as a marker for FRAXA.

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Year:  1991        PMID: 1673307     DOI: 10.1002/ajmg.1320380234

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Epigenetics in nucleotide repeat expansion disorders.

Authors:  Fang He; Peter K Todd
Journal:  Semin Neurol       Date:  2012-01-21       Impact factor: 3.420

2.  Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Authors:  Angélique Quartier; Hélène Poquet; Brigitte Gilbert-Dussardier; Massimiliano Rossi; Anne-Sophie Casteleyn; Vincent des Portes; Claire Feger; Elsa Nourisson; Paul Kuentz; Claire Redin; Julien Thevenon; Anne-Laure Mosca-Boidron; Patrick Callier; Jean Muller; Gaetan Lesca; Frédéric Huet; Véronique Geoffroy; Salima El Chehadeh; Matthieu Jung; Benoit Trojak; Stéphanie Le Gras; Daphné Lehalle; Bernard Jost; Stéphanie Maury; Alice Masurel; Patrick Edery; Christel Thauvin-Robinet; Bénédicte Gérard; Jean-Louis Mandel; Laurence Faivre; Amélie Piton
Journal:  Eur J Hum Genet       Date:  2017-02-08       Impact factor: 4.246

3.  Combining Lovastatin and Minocycline for the Treatment of Fragile X Syndrome: Results From the LovaMiX Clinical Trial.

Authors:  Camille Champigny; Florence Morin-Parent; Laurence Bellehumeur-Lefebvre; Artuela Çaku; Jean-François Lepage; François Corbin
Journal:  Front Psychiatry       Date:  2022-01-04       Impact factor: 4.157

  3 in total

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