Linkage of typical pseudoachondroplasia to chromosome 19
Journal Article
·
· Genomics; (United States)
- Univ. of Texas Medical School, Houston, TX (United States)
- John Hopkins School of Medicine, Baltimore, MD (United States)
- UCLA School of Medicine, Los Angeles, CA (United States)
- Harvard Medical School, Boston, MA (United States)
- 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
Similar Records
Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:7076401
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
Journal Article
·
Wed Dec 01 00:00:00 EST 1993
· Genomics; (United States)
·
OSTI ID:7076401
+5 more
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19
Journal Article
·
Sat Jan 01 00:00:00 EST 1994
· American Journal of Human Genetics; (United States)
·
OSTI ID:7076401
+3 more