The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92
- INSERM U12, Paris (France)
- University Hospital Nijmegen (Netherlands)
- Institute of Child Health, London (United Kingdom)
- Unite de Genetique, Angers (France)
- Polar Institute of Medical Genetics, Tromsoe (Norway)
- Genetics and IVF Institute, Fairfax, VA (United States); and others
Previous linkage studies in X-linked spondyloepiphyseal dysplasia (SEDL) placed the gene in the region Xp22.2-p22.1 by linkage to DXS41. Here, the authors have extended earlier studies by analyzing 15 families with 13 markers from the Xp2 region. Pairwise linkage analysis revealed significant linkage of the SEDL to 8 markers from the Xp22.2-Xp22.1 region. Maximum lod scores were obtained with DXS207, z[sub max] = 9.16 at [theta][sub max] = 0.021 with confidence limits of 0.00-0.09, and DXS197, z[sub max] = 7.98 at [theta][sub max] = 0.00 with confidence limits of 0.00-0.06. The study of one recombinant in family 4 indicated that DXS 41 is more likely proximal to DXS92 than distal. Multipoint linkage results and analysis of recombination events indicated that the mutation responsible for SEDL is located in Xp22 between DXS16 and DXS92. 39 refs., 3 figs., 2 tabs.
- OSTI ID:
- 6974372
- Journal Information:
- Genomics; (United States), Vol. 18:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
HUMAN X CHROMOSOME
GENETIC MAPPING
VERTEBRAE
HEREDITARY DISEASES
BONE TISSUES
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
SPONDYLITIS
ANIMAL TISSUES
BODY
CHROMOSOMES
CONNECTIVE TISSUE
DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MALFORMATIONS
MAPPING
ORGANS
PATHOLOGICAL CHANGES
RHEUMATIC DISEASES
SKELETAL DISEASES
SKELETON
TISSUES
X CHROMOSOME
550400* - Genetics
550900 - Pathology