Literature DB >> 2606471

Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male.

J Goodship1, R Levinsky, S Malcolm.   

Abstract

We present a linkage map of DNA probes around the X-linked severe combined immunodeficiency (IMD4) locus at Xq11-13. DXS159 and PGK1 show no cross-overs with the disease locus (Lod 3.01 at theta = 0.00). The order of loci is DXS1-DXS106-(DXS159-PGK1-IMD4)-DXS72 -DXYS1. Members of families whose carrier status has been established by X-inactivation patterns were included in the analysis. As the probe (pSPT/PGK), which is used for investigation of X-inactivation patterns, has been shown to be linked to the disease itself, it is possible to assign phase in mothers of sporadic cases who have been shown to be carriers, even when they have no surviving male offspring.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2606471     DOI： 10.1007/bf00210662

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


  13 in total

1.  A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors.

Authors:  J Attwood; S Bryant
Journal:  Ann Hum Genet       Date:  1988-07       Impact factor: 1.670

2.  Primary immunodeficiency diseases. Report of a World Health Organization scientific group.

Authors: 
Journal:  Clin Immunol Immunopathol       Date:  1986-07

3.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

4.  A primary genetic map of the pericentromeric region of the human X chromosome.

Authors:  M M Mahtani; H F Willard
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

5.  Clonal analysis using recombinant DNA probes from the X-chromosome.

Authors:  B Vogelstein; E R Fearon; S R Hamilton; A C Preisinger; H F Willard; A M Michelson; A D Riggs; S H Orkin
Journal:  Cancer Res       Date:  1987-09-15       Impact factor: 12.701

6.  Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.

Authors:  B Arveiler; I Oberlé; J L Mandel
Journal:  Genomics       Date:  1987-09       Impact factor: 5.736

7.  An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

Authors:  F P Cremers; R A Pfeiffer; T J van de Pol; M H Hofker; T A Kruse; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

8.  Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

Authors:  R L Nussbaum; J G Lesko; R A Lewis; S A Ledbetter; D H Ledbetter
Journal:  Proc Natl Acad Sci U S A       Date:  1987-09       Impact factor: 11.205

9.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

10.  Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.

Authors:  M Schwartz; H M Yang; E Niebuhr; T Rosenberg; D C Page
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132
View more
  3 in total

Review 1.  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

2.  Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

Authors:  T Lester; M de Alwis; P A Clark; A M Jones; F Katz; R J Levinsky; C Kinnon
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 3.  The molecular basis of X-linked immunodeficiency disease.

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.