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

Abstract

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.

Authors:
; ; ; ; ; ; ; ; ; ;
Publication Date:
Research Org.:
Institut National de la Sante et de la Recherche Medicale, Paris (France)
OSTI Identifier:
6771021
Resource Type:
Journal Article
Journal Name:
Proc. Natl. Acad. Sci. U.S.A.; (United States)
Additional Journal Information:
Journal Volume: 84:21
Country of Publication:
United States
Language:
English
Subject:
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

Citation Formats

de Saint Basile, G, Arveiler, B, Oberle, I, Malcolm, S, Levinsky, R J, Lau, Y L, Hofker, M, Debre, M, Fischer, A, Griscelli, C, and Mandel, J L. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. United States: N. p., 1987. Web. doi:10.1073/pnas.84.21.7576.
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. Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. United States. https://doi.org/10.1073/pnas.84.21.7576
de Saint Basile, G, Arveiler, B, Oberle, I, Malcolm, S, Levinsky, R J, Lau, Y L, Hofker, M, Debre, M, Fischer, A, Griscelli, C, and Mandel, J L. 1987. "Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13". United States. https://doi.org/10.1073/pnas.84.21.7576.
@article{osti_6771021,
title = {Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13},
author = {de Saint Basile, G and Arveiler, B and Oberle, I and Malcolm, S and Levinsky, R J and Lau, Y L and Hofker, M and Debre, M and Fischer, A and Griscelli, C and Mandel, J L},
abstractNote = {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.},
doi = {10.1073/pnas.84.21.7576},
url = {https://www.osti.gov/biblio/6771021}, journal = {Proc. Natl. Acad. Sci. U.S.A.; (United States)},
number = ,
volume = 84:21,
place = {United States},
year = {Sun Nov 01 00:00:00 EST 1987},
month = {Sun Nov 01 00:00:00 EST 1987}
}