Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region
- PMID: 8276417
- DOI: 10.1006/geno.1993.1420
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region
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.
Similar articles
-
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.Genomics. 1991 Sep;11(1):193-8. Genomics. 1991. PMID: 1765376
-
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.Hum Mol Genet. 1992 Jul;1(4):249-53. doi: 10.1093/hmg/1.4.249. Hum Mol Genet. 1992. PMID: 1303194
-
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.Am J Hum Genet. 1993 May;52(5):907-14. Am J Hum Genet. 1993. PMID: 8488840 Free PMC article.
-
Clinical features, treatment and genetic background of Treacher Collins syndrome.J Appl Genet. 2002;43(2):223-33. J Appl Genet. 2002. PMID: 12080178 Review.
-
Treacher Collins syndrome.Adv Otorhinolaryngol. 2000;56:53-9. doi: 10.1159/000059083. Adv Otorhinolaryngol. 2000. PMID: 10868214 Review. No abstract available.
Cited by
-
The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.Int J Mol Sci. 2021 Mar 1;22(5):2482. doi: 10.3390/ijms22052482. Int J Mol Sci. 2021. PMID: 33804586 Free PMC article. Review.
-
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.Am J Hum Genet. 1997 Mar;60(3):515-24. Am J Hum Genet. 1997. PMID: 9042910 Free PMC article.
-
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.Am J Hum Genet. 1995 Dec;57(6):1371-6. Am J Hum Genet. 1995. PMID: 8533766 Free PMC article.
-
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3110-5. doi: 10.1073/pnas.94.7.3110. Proc Natl Acad Sci U S A. 1997. PMID: 9096354 Free PMC article.
-
Treacher Collins syndrome.J Med Genet. 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806. J Med Genet. 1995. PMID: 8558560 Free PMC article. Review. No abstract available.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous
