The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
Identifieur interne : 000882 ( Main/Exploration ); précédent : 000881; suivant : 000883The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
Auteurs : G. David ; P. Giunti ; N. Abbas ; P. Coullin ; G. Stevanin ; W. Horta ; R. Gemmill ; J. Weissenbach ; N. Wood ; S. Cunha ; H. Drabkin ; A. E. Harding ; Yves Agid [France] ; A. BriceSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 1996.
Abstract
Two families with autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) were investigated. Analysis of 23 parent-child couples demonstrated the existence of marked anticipation, greater in paternal than in maternal transmissions, with earlier age at onset and a more rapid clinical course in successive generations. Clinical analysis revealed the presence of a great variability in age at onset, initial symptom, and associated signs, confirming the characteristic clinical heterogeneity of ADCA type II. The gene for ADCA type II previously was mapped to the spinocerebellar ataxia 7 (SCA7) locus on chromosome 3p12-p21.1. Linkage analysis of the two new families of different geographic origin confirmed the characteristic genetic homogeneity of ADCA type II, distinguishing it from ADCA type I. Haplotype analysis permitted refinement of the SCA7 region to the 5-cM interval between markers D3S1312 and D3S1600 on chromosome 3p12-p13. Eighteen sequence-tagged sites were used for the construction of an integrated map of the candidate region, based on a YACs contig. The entire candidate region is contained in a single nonchimeric YAC of 660 kb. The probable involvement of a CAG trinucleotide expansion, suggested by previous studies, should greatly facilitate the identification of the gene for ADCA type II.
Url:
PubMed: 8940279
PubMed Central: 1914853
Affiliations:
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David</name></author><author><name sortKey="Giunti, P" sort="Giunti, P" uniqKey="Giunti P" first="P." last="Giunti">P. Giunti</name></author><author><name sortKey="Abbas, N" sort="Abbas, N" uniqKey="Abbas N" first="N." last="Abbas">N. Abbas</name></author><author><name sortKey="Coullin, P" sort="Coullin, P" uniqKey="Coullin P" first="P." last="Coullin">P. Coullin</name></author><author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G." last="Stevanin">G. Stevanin</name></author><author><name sortKey="Horta, W" sort="Horta, W" uniqKey="Horta W" first="W." last="Horta">W. Horta</name></author><author><name sortKey="Gemmill, R" sort="Gemmill, R" uniqKey="Gemmill R" first="R." last="Gemmill">R. Gemmill</name></author><author><name sortKey="Weissenbach, J" sort="Weissenbach, J" uniqKey="Weissenbach J" first="J." last="Weissenbach">J. Weissenbach</name></author><author><name sortKey="Wood, N" sort="Wood, N" uniqKey="Wood N" first="N." last="Wood">N. 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Brice</name></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="1996">1996</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Two families with autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) were investigated. Analysis of 23 parent-child couples demonstrated the existence of marked anticipation, greater in paternal than in maternal transmissions, with earlier age at onset and a more rapid clinical course in successive generations. Clinical analysis revealed the presence of a great variability in age at onset, initial symptom, and associated signs, confirming the characteristic clinical heterogeneity of ADCA type II. The gene for ADCA type II previously was mapped to the spinocerebellar ataxia 7 (SCA7) locus on chromosome 3p12-p21.1. Linkage analysis of the two new families of different geographic origin confirmed the characteristic genetic homogeneity of ADCA type II, distinguishing it from ADCA type I. Haplotype analysis permitted refinement of the SCA7 region to the 5-cM interval between markers D3S1312 and D3S1600 on chromosome 3p12-p13. Eighteen sequence-tagged sites were used for the construction of an integrated map of the candidate region, based on a YACs contig. The entire candidate region is contained in a single nonchimeric YAC of 660 kb. The probable involvement of a CAG trinucleotide expansion, suggested by previous studies, should greatly facilitate the identification of the gene for ADCA type II.</p></div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Abbas, N" sort="Abbas, N" uniqKey="Abbas N" first="N." last="Abbas">N. Abbas</name><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A." last="Brice">A. Brice</name><name sortKey="Coullin, P" sort="Coullin, P" uniqKey="Coullin P" first="P." last="Coullin">P. Coullin</name><name sortKey="Cunha, S" sort="Cunha, S" uniqKey="Cunha S" first="S." last="Cunha">S. Cunha</name><name sortKey="David, G" sort="David, G" uniqKey="David G" first="G." last="David">G. David</name><name sortKey="Drabkin, H" sort="Drabkin, H" uniqKey="Drabkin H" first="H." last="Drabkin">H. Drabkin</name><name sortKey="Gemmill, R" sort="Gemmill, R" uniqKey="Gemmill R" first="R." last="Gemmill">R. Gemmill</name><name sortKey="Giunti, P" sort="Giunti, P" uniqKey="Giunti P" first="P." last="Giunti">P. Giunti</name><name sortKey="Harding, A E" sort="Harding, A E" uniqKey="Harding A" first="A. E." last="Harding">A. E. Harding</name><name sortKey="Horta, W" sort="Horta, W" uniqKey="Horta W" first="W." last="Horta">W. Horta</name><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G." last="Stevanin">G. Stevanin</name><name sortKey="Weissenbach, J" sort="Weissenbach, J" uniqKey="Weissenbach J" first="J." last="Weissenbach">J. Weissenbach</name><name sortKey="Wood, N" sort="Wood, N" uniqKey="Wood N" first="N." last="Wood">N. Wood</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y." last="Agid">Yves Agid</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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