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Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
Genomics. 1991 Sep; 11(1):193-8.G

Abstract

Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3----q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at theta = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31----q32, and loci D5S22, D5S61, and D5S43, which map to 5q34----qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition.

Authors+Show Affiliations

Department of Pediatrics, Johns Hopkins Hospital, Baltimore, Maryland 21205.No 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

1765376

Citation

Jabs, E W., et al. "Mapping the Treacher Collins Syndrome Locus to 5q31.3----q33.3." Genomics, vol. 11, no. 1, 1991, pp. 193-8.
Jabs EW, Li X, Coss CA, et al. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. Genomics. 1991;11(1):193-8.
Jabs, E. W., Li, X., Coss, C. A., Taylor, E. W., Meyers, D. A., & Weber, J. L. (1991). Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. Genomics, 11(1), 193-8.
Jabs EW, et al. Mapping the Treacher Collins Syndrome Locus to 5q31.3----q33.3. Genomics. 1991;11(1):193-8. PubMed PMID: 1765376.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. AU - Jabs,E W, AU - Li,X, AU - Coss,C A, AU - Taylor,E W, AU - Meyers,D A, AU - Weber,J L, PY - 1991/9/1/pubmed PY - 1991/9/1/medline PY - 1991/9/1/entrez SP - 193 EP - 8 JF - Genomics JO - Genomics VL - 11 IS - 1 N2 - Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3----q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at theta = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31----q32, and loci D5S22, D5S61, and D5S43, which map to 5q34----qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/1765376/Mapping_the_Treacher_Collins_syndrome_locus_to_5q31_3____q33_3_ L2 - https://www.diseaseinfosearch.org/result/7175 DB - PRIME DP - Unbound Medicine ER -