Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13

Journal Article · Sun Nov 01 00:00:00 EST 1987 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.84.21.7576· OSTI ID:6771021

de Saint Basile, G; Arveiler, B; Oberle, I; Malcolm, S; Levinsky, R J; Lau, Y L; Hofker, M; Debre, M; Fischer, A; Griscelli, C; Mandel, J L

The gene for X chromosome-linked severe combined immunodeficiency (SCID), a disease characterized by a block in early T-cell differentiation, has been mapped to the region Xq11-q13 by linkage analysis with restriction fragment length polymorphisms. High logarithm of odds (lod) scores were obtained with the marker 19.2 (DXS3) and with the marker cpX73 (DXS159) that showed complete cosegregation with the disease locus in the informative families analyzed. Other significant linkages were obtained with several markers from Xq11 to q22. With the help of a recently developed genetic map of the region, it was possible to perform multipoint linkage analysis, and the most likely genetic order is DXS1-(SCID, DXS159)-DXYS1-DXYS12-DXS3, with a maximum multipoint logarithm of odds score of 11.0. The results demonstrate that the SCID locus (gene symbol IMD4) is not closely linked to the locus of Bruton's agammaglobulinemia (a defect in B-cell maturation). They also provide a way for a better estimation of risk for carrier and antenatal diagnosis.

• Research Organization: Institut National de la Sante et de la Recherche Medicale, Paris (France)
• OSTI ID: 6771021
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 84:21
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HEREDITARY DISEASES
DIAGNOSIS
RISK ASSESSMENT
X CHROMOSOME
GENETIC MAPPING
BIOLOGICAL MARKERS
CELL DIFFERENTIATION
DNA
HEMIC DISEASES
IMMUNOLOGY
LYMPHOCYTES
RFLPS
ANIMAL CELLS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHROMOSOMES
CONNECTIVE TISSUE CELLS
DISEASES
HETEROCHROMOSOMES
LEUKOCYTES
MAPPING
MATERIALS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
SOMATIC CELLS
550401* - Genetics- Tracer Techniques