Linkage of typical pseudoachondroplasia to chromosome 19

Journal Article · Tue Nov 30 23:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1016/S0888-7543(05)80370-2· OSTI ID:7076401

Hecht, J T; Deere, M; Conner, B; Horton, W A ^[1]; Francomano, C A ^[2]; Briggs, M D; Cohn, D H ^[3]; Warman, M ^[4]; Blanton, S H ^[5]

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1. Univ. of Texas Medical School, Houston, TX (United States)
2. John Hopkins School of Medicine, Baltimore, MD (United States)
3. UCLA School of Medicine, Los Angeles, CA (United States)
4. Harvard Medical School, Boston, MA (United States)
5. Univ. of Virginia, Charlottesville, VA (United States)

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, the authors report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at [theta] = 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/D19S215)-D19S222-D19S49. 24 refs., 4 figs., 1 tab.

• OSTI ID: 7076401
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 18:3; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
GENETIC MAPPING
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
MAPPING
PATHOGENESIS
SKELETAL DISEASES