Close Linkage of the Locus for X Chromosome-linked Severe Combined Immunodeficiency to Polymorphic DNA Markers in Xq11-q13

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1987 Nov 1

PMID 3478714

Citations 20

Authors

G de Saint Basile

B Arveiler

I Oberle

S Malcolm

R J Levinsky

Y L Lau

M Hofker

M Debre

A Fischer

C Griscelli

Affiliations

Soon will be listed here.

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) (z = 5.51 at a recombination fraction theta = 0.11) and with the marker cpX73 (DXS159) that showed complete cosegregation with the disease locus in the informative families analyzed (z = 5.27 at theta = 0.00). 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. Our 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.

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References

Griscelli C, Durandy A, Virelizier J, Ballet J, Daguillard F . Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immunodeficiency disease. J Pediatr. 1978; 93(3):404-11. DOI: 10.1016/s0022-3476(78)81146-9. View

Arveiler B, Hofker M, Bergen A, Mandel J . A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12. Nucleic Acids Res. 1987; 15(14):5903. PMC: 306047. DOI: 10.1093/nar/15.14.5903. View

Page D, de Martinville B, Barker D, Wyman A, White R, Francke U . Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A. 1982; 79(17):5352-6. PMC: 346894. DOI: 10.1073/pnas.79.17.5352. View

Durandy A, Dumez Y, Oury C, Henrion R, Griscelli C . Prenatal diagnosis of severe combined immunodeficiency. J Pediatr. 1982; 101(6):995-7. DOI: 10.1016/s0022-3476(82)80029-2. View

Drayna D, Davies K, Hartley D, Mandel J, Camerino G, Williamson R . Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A. 1984; 81(9):2836-9. PMC: 345165. DOI: 10.1073/pnas.81.9.2836. View

Lathrop G, Lalouel J, Julier C, Ott J . Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984; 81(11):3443-6. PMC: 345524. DOI: 10.1073/pnas.81.11.3443. View

Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

Page D, Harper M, Love J, Botstein D . Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature. 1984; 311(5982):119-23. DOI: 10.1038/311119a0. View

Geldwerth D, Bishop C, Guellaen G, Koenig M, Vergnaud G, Mandel J . Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J. 1985; 4(7):1739-43. PMC: 554411. DOI: 10.1002/j.1460-2075.1985.tb03844.x. View

10.

Koenig M, Moisan J, Heilig R, Mandel J . Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res. 1985; 13(15):5485-501. PMC: 321885. DOI: 10.1093/nar/13.15.5485. View

11.

Drayna D, White R . The genetic linkage map of the human X chromosome. Science. 1985; 230(4727):753-8. DOI: 10.1126/science.4059909. View

12.

Goodfellow P, Davies K, Ropers H . Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1985; 40(1-4):296-352. DOI: 10.1159/000132178. View

13.

Willard H, Skolnick M, Pearson P, Mandel J . Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet. 1985; 40(1-4):360-489. DOI: 10.1159/000132180. View

14.

Oberle I, Camerino G, Kloepfer C, Moisan J, Grzeschik K, Hellkuhl B . Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet. 1986; 72(1):43-9. DOI: 10.1007/BF00278816. View

15.

Kwan S, Kunkel L, Bruns G, Wedgwood R, Latt S, Rosen F . Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest. 1986; 77(2):649-52. PMC: 423409. DOI: 10.1172/JCI112351. View

16.

Mensink E, Thompson A, Schot J, van De Greef W, Sandkuyl L, Schuurman R . Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. Hum Genet. 1986; 73(4):327-32. DOI: 10.1007/BF00279095. View

17.

Alwine J, Kemp D, Parker B, Reiser J, Renart J, Stark G . Detection of specific RNAs or specific fragments of DNA by fractionation in gels and transfer to diazobenzyloxymethyl paper. Methods Enzymol. 1979; 68:220-42. DOI: 10.1016/0076-6879(79)68017-5. View