Skip to main content
OSTI.GOVU.S. Department of Energy Office of Scientific and Technical Information
U.S. Department of Energy
Office of Scientific and Technical Information
 

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92

Journal Article · · Genomics; (United States)
; ;  [1]; ; ;  [2];  [3];  [4];  [5];  [6]
  1. INSERM U12, Paris (France)
  2. University Hospital Nijmegen (Netherlands)
  3. Institute of Child Health, London (United Kingdom)
  4. Unite de Genetique, Angers (France)
  5. Polar Institute of Medical Genetics, Tromsoe (Norway)
  6. Genetics and IVF Institute, Fairfax, VA (United States); and others
+ Show Author Affiliations

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), Journal Name: Genomics; (United States) Vol. 18:1; ISSN GNMCEP; ISSN 0888-7543
Country of Publication:
United States
Language:
English

Similar Records

Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited
Journal Article · Fri Jul 15 00:00:00 EDT 1994 · American Journal of Medical Genetics · OSTI ID:62057
Refinement of the localization of the gene responsible for spondylo epiphyseal dysplasia in Xp22
Journal Article · Thu Sep 01 00:00:00 EDT 1994 · American Journal of Human Genetics · OSTI ID:134032
Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene
Journal Article · Mon Aug 01 00:00:00 EDT 1994 · Genomics · OSTI ID:186033

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
ANIMAL TISSUES
BODY
BONE TISSUES
CHROMOSOMES
CONGENITAL DISEASES
CONGENITAL MALFORMATIONS
CONNECTIVE TISSUE
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MALFORMATIONS
MAPPING
ORGANS
PATHOLOGICAL CHANGES
RHEUMATIC DISEASES
SKELETAL DISEASES
SKELETON
SPONDYLITIS
TISSUES
VERTEBRAE
X CHROMOSOME