Recombinational and Physical Mapping of the Locus for Primary Open-Angle Glaucoma ( GLC1A ) on Chromosome 1q23–q25
Identifieur interne : 004298 ( Main/Exploration ); précédent : 004297; suivant : 004299Recombinational and Physical Mapping of the Locus for Primary Open-Angle Glaucoma ( GLC1A ) on Chromosome 1q23–q25
Auteurs : Ahmed Belmouden [France] ; Marie F. Adam [France] ; Stéphane Dupont De Dinechin [France] ; Antoine P. Brézin [France] ; Philippe Rigault [France] ; Ilya Chumakov [France] ; Jean-François Bach [France] ; Henri-Jean Garchon [France]Source :
- Genomics [ 0888-7543 ] ; 1997.
Abstract
Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness in industrialized countries. A locus for juvenile-onset POAG,GLC1A,has been mapped to 1q21–q31 in a 9-cM interval. With recombinant haplotypes, we have now reduced theGLC1Ainterval to a maximum of 3 cM, between theD1S452/NGA1/D1S210andNGA5loci. These loci are 2.8 Mb apart on a 4.7-Mb contig that we have completed between theD1S2851andD1S218loci and that includes 96 YAC clones and 48 STSs. The newGLC1Ainterval itself is now covered by 25 YACs, 30 STSs, and 16 restriction enzyme site landmarks. The lack of aNotI site suggests that the region has few CpG islands and a low gene content. This is compatible with its predominant cytogenetic location on the 1q24 G-band. Finally, we have excluded important candidate genes, including genes coding for three ATPases (ATP1B1, ATP2B4, ATP1A2), an ion channel (VDAC4), antithrombine III (AT3), and prostaglandin synthase (PTGS2). Our results provide a basis to identify theGLC1Agene.
Url:
DOI: 10.1006/geno.1996.4491
Affiliations:
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A locus for juvenile-onset POAG,GLC1A,has been mapped to 1q21–q31 in a 9-cM interval. With recombinant haplotypes, we have now reduced theGLC1Ainterval to a maximum of 3 cM, between theD1S452/NGA1/D1S210andNGA5loci. These loci are 2.8 Mb apart on a 4.7-Mb contig that we have completed between theD1S2851andD1S218loci and that includes 96 YAC clones and 48 STSs. The newGLC1Ainterval itself is now covered by 25 YACs, 30 STSs, and 16 restriction enzyme site landmarks. The lack of aNotI site suggests that the region has few CpG islands and a low gene content. This is compatible with its predominant cytogenetic location on the 1q24 G-band. Finally, we have excluded important candidate genes, including genes coding for three ATPases (ATP1B1, ATP2B4, ATP1A2), an ion channel (VDAC4), antithrombine III (AT3), and prostaglandin synthase (PTGS2). Our results provide a basis to identify theGLC1Agene.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Belmouden, Ahmed" sort="Belmouden, Ahmed" uniqKey="Belmouden A" first="Ahmed" last="Belmouden">Ahmed Belmouden</name></region><name sortKey="Adam, Marie F" sort="Adam, Marie F" uniqKey="Adam M" first="Marie F." last="Adam">Marie F. Adam</name><name sortKey="Bach, Jean Francois" sort="Bach, Jean Francois" uniqKey="Bach J" first="Jean-François" last="Bach">Jean-François Bach</name><name sortKey="Brezin, Antoine P" sort="Brezin, Antoine P" uniqKey="Brezin A" first="Antoine P." last="Brézin">Antoine P. Brézin</name><name sortKey="Chumakov, Ilya" sort="Chumakov, Ilya" uniqKey="Chumakov I" first="Ilya" last="Chumakov">Ilya Chumakov</name><name sortKey="De Dinechin, Stephane Dupont" sort="De Dinechin, Stephane Dupont" uniqKey="De Dinechin S" first="Stéphane Dupont" last="De Dinechin">Stéphane Dupont De Dinechin</name><name sortKey="Garchon, Henri Jean" sort="Garchon, Henri Jean" uniqKey="Garchon H" first="Henri-Jean" last="Garchon">Henri-Jean Garchon</name><name sortKey="Rigault, Philippe" sort="Rigault, Philippe" uniqKey="Rigault P" first="Philippe" last="Rigault">Philippe Rigault</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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