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 H Blanton

Research output: Contribution to journalArticle

45 Citations (Scopus)

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
Pages (from-to)661-666
Number of pages6
JournalGenomics
Volume18
Issue number3
DOIs
StatePublished - Jan 1 1993
Externally publishedYes

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Chromosomes, Human, Pair 19
Lod Score
Chromosome Mapping
Osteoarthritis
Cartilage
Extracellular Matrix
Joints
Genes
Pseudoachondroplasia

ASJC Scopus subject areas

  • Genetics

Cite this

Hecht, J. T., Francomano, C. A., Briggs, M. D., Deere, M., Conner, B., Horton, W. A., ... 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

Linkage of typical pseudoachondroplasia to chromosome 19. / Hecht, Jacqueline T.; Francomano, Clair A.; Briggs, Michael D.; Deere, Michelle; Conner, Barbara; Horton, William A.; Warman, Matthew; Cohn, Daniel H.; Blanton, Susan H.

In: Genomics, Vol. 18, No. 3, 01.01.1993, p. 661-666.

Research output: Contribution to journalArticle

Hecht, JT, Francomano, CA, Briggs, MD, Deere, M, Conner, B, Horton, WA, Warman, M, Cohn, DH & Blanton, SH 1993, 'Linkage of typical pseudoachondroplasia to chromosome 19', Genomics, vol. 18, no. 3, pp. 661-666. https://doi.org/10.1016/S0888-7543(05)80370-2
Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA et al. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics. 1993 Jan 1;18(3):661-666. https://doi.org/10.1016/S0888-7543(05)80370-2
Hecht, Jacqueline T. ; Francomano, Clair A. ; Briggs, Michael D. ; Deere, Michelle ; Conner, Barbara ; Horton, William A. ; Warman, Matthew ; Cohn, Daniel H. ; Blanton, Susan H. / Linkage of typical pseudoachondroplasia to chromosome 19. In: Genomics. 1993 ; Vol. 18, No. 3. pp. 661-666.
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