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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.AJ

Abstract

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and fluorescence in situ hybridization (FISH) to more accurately define the TCOF1 critical region. Cosmids IG90 and SPARC, which map to distal 5q, encompass two and one hypervariable microsatellite markers, respectively. The heterozygosity values of these three markers range from .72 to .81. Twenty-two unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all three markers, the strongest support for positive linkage being provided by haplotyping those markers at the locus encompassed by the cosmid IG90 (Zmax = 19.65; theta = .010). FISH to metaphase chromosomes and interphase nuclei established that IG90 lies centromeric to SPARC. This information combined with the data generated by genetic linkage analysis demonstrated that the TCOF1 locus is closely flanked proximally by IG90 and distally by SPARC.

Authors+Show Affiliations

Department of Cell and Structural Biology, University of Manchester, England.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

Language

eng

PubMed ID

8488840

Citation

Dixon, M J., et al. "Narrowing the Position of the Treacher Collins Syndrome Locus to a Small Interval Between Three New Microsatellite Markers at 5q32-33.1." American Journal of Human Genetics, vol. 52, no. 5, 1993, pp. 907-14.
Dixon MJ, Dixon J, Houseal T, et al. 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;52(5):907-14.
Dixon, M. J., Dixon, J., Houseal, T., Bhatt, M., Ward, D. C., Klinger, K., & Landes, G. M. (1993). Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. American Journal of Human Genetics, 52(5), 907-14.
Dixon MJ, et al. 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;52(5):907-14. PubMed PMID: 8488840.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. AU - Dixon,M J, AU - Dixon,J, AU - Houseal,T, AU - Bhatt,M, AU - Ward,D C, AU - Klinger,K, AU - Landes,G M, PY - 1993/5/1/pubmed PY - 1993/5/1/medline PY - 1993/5/1/entrez SP - 907 EP - 14 JF - American journal of human genetics JO - Am J Hum Genet VL - 52 IS - 5 N2 - Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and fluorescence in situ hybridization (FISH) to more accurately define the TCOF1 critical region. Cosmids IG90 and SPARC, which map to distal 5q, encompass two and one hypervariable microsatellite markers, respectively. The heterozygosity values of these three markers range from .72 to .81. Twenty-two unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all three markers, the strongest support for positive linkage being provided by haplotyping those markers at the locus encompassed by the cosmid IG90 (Zmax = 19.65; theta = .010). FISH to metaphase chromosomes and interphase nuclei established that IG90 lies centromeric to SPARC. This information combined with the data generated by genetic linkage analysis demonstrated that the TCOF1 locus is closely flanked proximally by IG90 and distally by SPARC. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/8488840/Narrowing_the_position_of_the_Treacher_Collins_syndrome_locus_to_a_small_interval_between_three_new_microsatellite_markers_at_5q32_33_1_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8488840/ DB - PRIME DP - Unbound Medicine ER -