Linkage of typical pseudoachondroplasia to chromosome 19

Jacqueline T. Hecht, Clair A. Francomano, Michael D. Briggs, Michelle Deere, Barbara Conner, William A. Horton, Matthew Warman, Daniel H. Cohn, Susan Halloran Blanton

Research output: Contribution to journalArticle

46 Scopus citations

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
JournalGenomics
Volume18
Issue number3
DOIs
StatePublished - Dec 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Hecht, J. T., Francomano, C. A., Briggs, M. D., Deere, M., Conner, B., Horton, W. A., Warman, M., Cohn, D. H., & Blanton, S. H. (1993). Linkage of typical pseudoachondroplasia to chromosome 19. Genomics, 18(3), 661-666. https://doi.org/10.1016/S0888-7543(05)80370-2