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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.HM

Abstract

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the locus for which has been chromosomally localized to 5q31-34. We have isolated four hypervariable microsatellite markers (heterozygosity values range from 0.70 to 0.89) which have been mapped to distal 5q. Fifteen unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all of these markers; the strongest support for positive linkage being provided by the marker IG52, with a maximum pairwise lod score of 9.77 at a recombination fraction of 0.055. Analysis of recombinant individuals, physical mapping by fluorescence in situ hybridization and genetic linkage analysis demonstrated that the TCOF1 locus was flanked proximally by the loci 2C7 and 2D10, and distally by the loci IG26 and IG52 with a maximum lod score of 14.4, as assessed by multipoint linkage analysis. The refinement of the localization of the TCOF1 locus to 5q32-33.2, with flanking markers, represents an important step towards the identification of the mutated gene itself.

Authors+Show Affiliations

Department of Cell and Structural Biology, University of Manchester, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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

1303194

Citation

Dixon, M J., et al. "Genetic and Physical Mapping of the Treacher Collins Syndrome Locus: Refinement of the Localization to Chromosome 5q32-33.2." Human Molecular Genetics, vol. 1, no. 4, 1992, pp. 249-53.
Dixon MJ, Dixon J, Raskova D, et al. Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. Hum Mol Genet. 1992;1(4):249-53.
Dixon, M. J., Dixon, J., Raskova, D., Le Beau, M. M., Williamson, R., Klinger, K., & Landes, G. M. (1992). Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. Human Molecular Genetics, 1(4), 249-53.
Dixon MJ, et al. Genetic and Physical Mapping of the Treacher Collins Syndrome Locus: Refinement of the Localization to Chromosome 5q32-33.2. Hum Mol Genet. 1992;1(4):249-53. PubMed PMID: 1303194.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. AU - Dixon,M J, AU - Dixon,J, AU - Raskova,D, AU - Le Beau,M M, AU - Williamson,R, AU - Klinger,K, AU - Landes,G M, PY - 1992/7/1/pubmed PY - 1992/7/1/medline PY - 1992/7/1/entrez SP - 249 EP - 53 JF - Human molecular genetics JO - Hum Mol Genet VL - 1 IS - 4 N2 - Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the locus for which has been chromosomally localized to 5q31-34. We have isolated four hypervariable microsatellite markers (heterozygosity values range from 0.70 to 0.89) which have been mapped to distal 5q. Fifteen unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all of these markers; the strongest support for positive linkage being provided by the marker IG52, with a maximum pairwise lod score of 9.77 at a recombination fraction of 0.055. Analysis of recombinant individuals, physical mapping by fluorescence in situ hybridization and genetic linkage analysis demonstrated that the TCOF1 locus was flanked proximally by the loci 2C7 and 2D10, and distally by the loci IG26 and IG52 with a maximum lod score of 14.4, as assessed by multipoint linkage analysis. The refinement of the localization of the TCOF1 locus to 5q32-33.2, with flanking markers, represents an important step towards the identification of the mutated gene itself. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/1303194/Genetic_and_physical_mapping_of_the_Treacher_Collins_syndrome_locus:_refinement_of_the_localization_to_chromosome_5q32_33_2_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/1.4.249 DB - PRIME DP - Unbound Medicine ER -