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Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
Genomics. 1993 Oct; 18(1):7-13.G

Abstract

Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the location of the gene within this region, linkage analysis was performed among the TCOF1 locus and 12 loci (IL9, FGFA, GRL, D5S207, D5S210, D5S376, CSF1R, SPARC, D5S119, D5S209, D5S527, FGFR4) in 13 Treacher Collins syndrome families. The highest maximum lod score was obtained between loci TCOF1 and D5S210 (Z = 10.52; theta = 0.02 +/- 0.07). The best order, IL9-GRL-D5S207/D5S210-CSF1R-SPARC-++ +D5S119, and genetic distances among these loci were determined in the 40 CEPH families by multipoint linkage analysis. YAC clones were used to establish the order of loci, centromere-5'GRL3'-D5S207-D5S210-D5S376-CSF1R -SPARC-D5S119-telomere. By combining known physical mapping data with ours, the order of chromosome 5q3 markers is centromere-IL9-FGFA-5'GRL3'-D5S207-D5S210- D5S376-CSF1R-SPARC-D5S119-D5S209- FGFR4-telomere. Based on this order, haplotype analysis suggests that the TCOF1 locus resides distal of CSF1R and proximal to SPARC within a region less than 1 Mb in size.

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Authors+Show Affiliations

Jabs EW
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287-3914.
Li X
No affiliation info available
Lovett M
No affiliation info available
Yamaoka LH
No affiliation info available
Taylor E
No affiliation info available
Speer MC
No affiliation info available
Coss C
No affiliation info available
Cadle R
No affiliation info available
Hall B
No affiliation info available
Brown K
No affiliation info available

MeSH

Base SequenceChromosome MappingChromosomes, Human, Pair 5DNA PrimersFemaleHaplotypesHumansMaleMandibulofacial DysostosisMolecular Sequence DataPedigree

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8276417

Citation

Jabs, E W., et al. "Genetic and Physical Mapping of the Treacher Collins Syndrome Locus With Respect to Loci in the Chromosome 5q3 Region." Genomics, vol. 18, no. 1, 1993, pp. 7-13.
Jabs EW, Li X, Lovett M, et al. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics. 1993;18(1):7-13.
Jabs, E. W., Li, X., Lovett, M., Yamaoka, L. H., Taylor, E., Speer, M. C., Coss, C., Cadle, R., Hall, B., & Brown, K. (1993). Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics, 18(1), 7-13.
Jabs EW, et al. Genetic and Physical Mapping of the Treacher Collins Syndrome Locus With Respect to Loci in the Chromosome 5q3 Region. Genomics. 1993;18(1):7-13. PubMed PMID: 8276417.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. A1 - Jabs,E W, AU - Li,X, AU - Lovett,M, AU - Yamaoka,L H, AU - Taylor,E, AU - Speer,M C, AU - Coss,C, AU - Cadle,R, AU - Hall,B, AU - Brown,K, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 7 EP - 13 JF - Genomics JO - Genomics VL - 18 IS - 1 N2 - Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the location of the gene within this region, linkage analysis was performed among the TCOF1 locus and 12 loci (IL9, FGFA, GRL, D5S207, D5S210, D5S376, CSF1R, SPARC, D5S119, D5S209, D5S527, FGFR4) in 13 Treacher Collins syndrome families. The highest maximum lod score was obtained between loci TCOF1 and D5S210 (Z = 10.52; theta = 0.02 +/- 0.07). The best order, IL9-GRL-D5S207/D5S210-CSF1R-SPARC-++ +D5S119, and genetic distances among these loci were determined in the 40 CEPH families by multipoint linkage analysis. YAC clones were used to establish the order of loci, centromere-5'GRL3'-D5S207-D5S210-D5S376-CSF1R -SPARC-D5S119-telomere. By combining known physical mapping data with ours, the order of chromosome 5q3 markers is centromere-IL9-FGFA-5'GRL3'-D5S207-D5S210- D5S376-CSF1R-SPARC-D5S119-D5S209- FGFR4-telomere. Based on this order, haplotype analysis suggests that the TCOF1 locus resides distal of CSF1R and proximal to SPARC within a region less than 1 Mb in size. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/8276417/Genetic_and_physical_mapping_of_the_Treacher_Collins_syndrome_locus_with_respect_to_loci_in_the_chromosome_5q3_region_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0888754383714205 DB - PRIME DP - Unbound Medicine ER -