Linkage of typical pseudoachondroplasia to chromosome 19

Journal Article · Wed Dec 01 00:00:00 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), Vol. 18:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

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