Abstract |
The loci involved in several X-linked mental retardation syndromes have been linked to the pericentromeric region of the X chromosome long arm (Xq12-q21). To isolate candidate genes for these diseases, we set up the construction of YAC contigs spanning this region. Two of these syndromes (the Juberg-Marsidi syndrome and the alpha-thalessemia mental retardation syndrome) have been recently linked, with high lod scores, to polymorphic probes previously assigned to Xq13.3. We therefore constructed a first YAC contig, encompassing this band, from DXS441 to PGK1. The physical map, deduced from the isolated clones, extends over 2.1 Mb of genomic DNA. Restriction analysis of the YAC contig allowed us to map precisely the loci previously assigned to that chromosomal region and to define their relative order. The validity of this physical map has been checked by comparing Sfi I digests of the YACs to genomic fragments obtained with the same enzyme. A cDNA selection approach, already performed with a previous partial contig, has been extended to cover the whole region.
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Authors | L Villard, J Gecz, L Colleaux, A M Lossi, J Chelly, Y Ishikawa-Brush, A P Monaco, M Fontes |
Journal | Genomics
(Genomics)
Vol. 26
Issue 1
Pg. 115-22
(Mar 01 1995)
ISSN: 0888-7543 [Print] United States |
PMID | 7782069
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Bacterial Proteins
- endodeoxyribonuclease MluI
- endodeoxyribonuclease SfiI
- CCGCGG-specific type II deoxyribonucleases
- Deoxyribonucleases, Type II Site-Specific
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Topics |
- Bacterial Proteins
- Base Sequence
- Centromere
(genetics)
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
(chemistry)
- Deoxyribonucleases, Type II Site-Specific
- Female
- Humans
- Molecular Sequence Data
- Polymerase Chain Reaction
- Pregnancy
- Sequence Tagged Sites
- Transcription, Genetic
- X Chromosome
(genetics)
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