Literature DB >> 2888720

Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

S Malcolm1, G de Saint Basile, B Arveiler, Y L Lau, P Szabo, A Fischer, C Griscelli, M Debre, J L Mandel, R E Callard.   

Abstract

Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.

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Year:  1987        PMID： 2888720     DOI： 10.1007/bf00272387

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

1.  Evidence that murine pre-B cells synthesise mu heavy chains but no light chains.

Authors:  P Burrows; M LeJeune; J F Kearney
Journal:  Nature       Date:  1979-08-30       Impact factor: 49.962

2.  Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

Authors:  S P Kwan; L Kunkel; G Bruns; R J Wedgwood; S Latt; F S Rosen
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808

3.  Expression of the gene defect in X-linked agammaglobulinemia.

Authors:  M E Conley; P Brown; A R Pickard; R H Buckley; D S Miller; W H Raskind; J W Singer; P J Fialkow
Journal:  N Engl J Med       Date:  1986-08-28       Impact factor: 91.245

4.  Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

Authors:  P N Goodfellow; K E Davies; H H Ropers
Journal:  Cytogenet Cell Genet       Date:  1985

5.  Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.

Authors:  J Ott; E J Mensink; A Thompson; J D Schot; R K Schuurman
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

6.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

7.  Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

Authors:  S V Hodgson; M E Robertson; C N Fear; J Goodship; S Malcolm; B Jay; M Bobrow; M E Pembrey
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

8.  Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors.

Authors:  B Vogelstein; E R Fearon; S R Hamilton; A P Feinberg
Journal:  Science       Date:  1985-02-08       Impact factor: 47.728

9.  Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.

Authors:  E J Mensink; A Thompson; J D Schot; M E Kraakman; L A Sandkuyl; R K Schuurman
Journal:  Clin Genet       Date:  1987-02       Impact factor: 4.438

10.  Phenotypic analysis of fetal blood leucocytes: potential for prenatal diagnosis of immunodeficiency disorders.

Authors:  D C Linch; P C Beverley; R J Levinsky; C H Rodeck
Journal:  Prenat Diagn       Date:  1982-07       Impact factor: 3.050
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  15 in total

1.  Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

Authors:  L D Notarangelo; O Parolini; A Albertini; M Duse; E Mazzolari; A Plebani; G Camerino; A G Ugazio
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

Review 2.  Genetics of human X-linked immunodeficiency diseases.

Authors:  R W Hendriks; R K Schuurman
Journal:  Clin Exp Immunol       Date:  1991-08       Impact factor: 4.330

3.  Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

Authors:  S Guioli; B Arveiler; B Bardoni; L D Notarangelo; P Panina; M Duse; A Ugazio; I Oberlé; G de Saint Basile; J L Mandel
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

Review 4.  Prenatal diagnosis and carrier detection in primary immunodeficiency disorders.

Authors:  Y L Lau; R J Levinsky
Journal:  Arch Dis Child       Date:  1988-07       Impact factor: 3.791

5.  Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.

Authors:  R W Hendriks; E J Mensink; M E Kraakman; A Thompson; R K Schuurman
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

6.  Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.

Authors:  D Vetrie; D Bentley; M Bobrow; A Harris
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

Review 7.  The molecular basis of X-linked immunodeficiency disease.

Authors:  C Kinnon; R Levinsky
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

Authors:  R C Allen; R G Nachtman; H M Rosenblatt; J W Belmont
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

9.  Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

Authors:  Y Ohta; R N Haire; R T Litman; S M Fu; R P Nelson; J Kratz; S J Kornfeld; M de la Morena; R A Good; G W Litman
Journal:  Proc Natl Acad Sci U S A       Date:  1994-09-13       Impact factor: 11.205

10.  Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.

Authors:  R Lovering; A K Sweatman; M A O'Reilly; S A Genet; H Middleton-Price; S Malcolm; R J Levinsky; C Kinnon
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132
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