Molecular analysis of 53 fragile X families with the probe StB12.3
Identifieur interne : 001460 ( France/Analysis ); précédent : 001459; suivant : 001461Molecular analysis of 53 fragile X families with the probe StB12.3
Auteurs : Puissant [France] ; M. C. Malinge [France] ; A. Larget-Piet [France] ; D. Martin [France] ; P. Chauveau [France] ; S. Odent [France] ; G. Plessis [France] ; Ph. Parent [France] ; B. Lemarec [France] ; L. Larget-Piet [France]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1994-12-01.
English descriptors
Abstract
Fifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320530413
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ISTEX:4C3C9AF2133C40D86B9FA2CCC37A61C8C26EF37DLe document en format XML
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Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1994-12-01">1994-12-01</date><biblScope unit="volume">53</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="370">370</biblScope><biblScope unit="page" to="373">373</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">4C3C9AF2133C40D86B9FA2CCC37A61C8C26EF37D</idno><idno type="DOI">10.1002/ajmg.1320530413</idno><idno type="ArticleID">AJMG1320530413</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>direct DNA diagnosis</term><term>fragile X syndrome</term><term>methylation</term><term>mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Pays de la Loire</li></region><settlement><li>Angers</li><li>Brest</li><li>Caen</li><li>Le Havre</li><li>Le Mans</li><li>Rennes</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Puissant" sort="Puissant" uniqKey="Puissant" last="Puissant">Puissant</name></noRegion><name sortKey="Chauveau, P" sort="Chauveau, P" uniqKey="Chauveau P" first="P." last="Chauveau">P. Chauveau</name><name sortKey="Larget Iet, A" sort="Larget Iet, A" uniqKey="Larget Iet A" first="A." last="Larget-Piet">A. Larget-Piet</name><name sortKey="Larget Iet, L" sort="Larget Iet, L" uniqKey="Larget Iet L" first="L." last="Larget-Piet">L. 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