Literature DB >> 3417309

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.

G de Saint-Basile1, M C Bohler, A Fischer, J Cartron, J L Dufier, C Griscelli, S H Orkin.   

Abstract

The clinical, biochemical, and molecular analysis of a patient with chronic granulomatous disease (CGD), retinitis pigmentosa (RP), and McLeod phenotype and of his parents demonstrated the X-linked transmission of these three traits in this family and a deletion of the entire X-CGD gene of the patient DNA. All but one other DNA markers tested, including those in Xp21, were present. These findings strongly suggest that the McLeod locus and at least one XL RP gene are closely linked to the X-CGD locus in the Xp21 region of the human X chromosome.

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3417309     DOI： 10.1007/BF00451463

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


  24 in total

1.  Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.

Authors:  J Fox; A M Hack; W A Fenton; M S Golbus; S Winter; F Kalousek; R Rozen; S W Brusilow; L E Rosenberg
Journal:  N Engl J Med       Date:  1986-11-06       Impact factor: 91.245

2.  Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g.

Authors:  A Böyum
Journal:  Scand J Clin Lab Invest Suppl       Date:  1968

4.  Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.

Authors:  M H Hofker; G J van Ommen; E Bakker; M Burmeister; P L Pearson
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

5.  Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance.

Authors:  A W Segal; A R Cross; R C Garcia; N Borregaard; N H Valerius; J F Soothill; O T Jones
Journal:  N Engl J Med       Date:  1983-02-03       Impact factor: 91.245

6.  Regional localisation of X chromosome short arm probes.

Authors:  K Paulsen; S Forrest; G Scherer; H H Ropers; K Davies
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

7.  The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.

Authors:  C Teahan; P Rowe; P Parker; N Totty; A W Segal
Journal:  Nature       Date:  1987 Jun 25-Jul 1       Impact factor: 49.962

8.  Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency.

Authors:  Y Ohno; E S Buescher; R Roberts; J A Metcalf; J I Gallin
Journal:  Blood       Date:  1986-04       Impact factor: 22.113

9.  Functional relationship of the cytochrome b to the superoxide-generating oxidase of human neutrophils.

Authors:  T G Gabig; E W Schervish; J T Santinga
Journal:  J Biol Chem       Date:  1982-04-25       Impact factor: 5.157

10.  Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.

Authors:  P Densen; S Wilkinson-Kroovand; G L Mandell; G Sullivan; R Oyen; W L Marsh
Journal:  Blood       Date:  1981-07       Impact factor: 22.113
View more
  16 in total

Review 1.  Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Authors:  Dirk Roos; Douglas B Kuhns; Anne Maddalena; Joachim Roesler; Juan Alvaro Lopez; Tadashi Ariga; Tadej Avcin; Martin de Boer; Jacinta Bustamante; Antonio Condino-Neto; Gigliola Di Matteo; Jianxin He; Harry R Hill; Steven M Holland; Caroline Kannengiesser; M Yavuz Köker; Irina Kondratenko; Karin van Leeuwen; Harry L Malech; László Marodi; Hiroyuki Nunoi; Marie-José Stasia; Anna Maria Ventura; Carl T Witwer; Baruch Wolach; John I Gallin
Journal:  Blood Cells Mol Dis       Date:  2010-08-21       Impact factor: 3.039

2.  Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.

Authors:  A F Wright; S S Bhattacharya; M A Aldred; M Jay; A D Carothers; N S Thomas; A C Bird; B Jay; H J Evans
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Authors:  J Rae; P E Newburger; M C Dinauer; D Noack; P J Hopkins; R Kuruto; J T Curnutte
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

4.  Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

Authors:  M A Musarella; L Anson-Cartwright; S M Leal; L D Gilbert; R G Worton; G A Fishman; J Ott
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

5.  Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.

Authors:  J D Chen; F Halliday; G Keith; L Sheffield; P Dickinson; R Gray; I Constable; M Denton
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

Review 6.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

7.  Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.

Authors:  P W Teague; M A Aldred; M Jay; M Dempster; C Harrison; A D Carothers; L J Hardwick; H J Evans; L Strain; D J Brock
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

8.  Phenotype-genotype correlations in X linked retinitis pigmentosa.

Authors:  J Kaplan; A Pelet; C Martin; O Delrieu; S Aymé; D Bonneau; M L Briard; A Hanauer; L Larget-Piet; P Lefrançois
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

9.  Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

Authors:  P E Newburger; D G Skalnik; P J Hopkins; E A Eklund; J T Curnutte
Journal:  J Clin Invest       Date:  1994-09       Impact factor: 14.808

10.  Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.

Authors:  M A Aldred; K L Dry; E B Knight-Jones; L J Hardwick; P W Teague; D H Lester; J Brown; G Spowart; A D Carothers; J A Raeburn
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.