Literature DB >> 3010296

DNA linkage analysis of X chromosome-linked chronic granulomatous disease.

R L Baehner, L M Kunkel, A P Monaco, J L Haines, P M Conneally, C Palmer, N Heerema, S H Orkin.   

Abstract

Chronic granulomatous disease (CGD) is a disorder of phagocytes that is usually inherited as an X chromosome-linked trait. Previous family studies suggested that the CGD locus resides on the distal short arm (Xp22-Xpter). Using cloned, polymorphic DNA probes we have performed a linkage analysis within CGD families that suggests a more proximal location (Xp21). In addition, the CGD locus is proximal to the Duchenne muscular dystrophy locus and lies within a broad region of Xp in which recombination appears to be greater than anticipated on the basis of physical distance between markers. Regional localization of the X chromosome CGD locus should facilitate molecular cloning of the CGD gene and molecular dissection of the phagocyte oxidase system.

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Year:  1986        PMID： 3010296      PMCID： PMC323521          DOI： 10.1073/pnas.83.10.3398

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  26 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  The biochemical basis of nitroblue tetrazolium reduction in normal human and chronic granulomatous disease polymorphonuclear leukocytes.

Authors:  R L Baehner; L A Boxer; J Davis
Journal:  Blood       Date:  1976-08       Impact factor: 22.113

3.  An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

Authors:  W Middlesworth; C Bertelson; L M Kunkel
Journal:  Nucleic Acids Res       Date:  1985-08-12       Impact factor: 16.971

4.  Quantitative nitroblue tetrazolium test in chronic granulomatous disease.

Authors:  R L Baehner; D G Nathan
Journal:  N Engl J Med       Date:  1968-05-02       Impact factor: 91.245

5.  The NBT slide test: a simple screening method for detecting chronic granulomatous disease and female carriers.

Authors:  H D Ochs; R P Igo
Journal:  J Pediatr       Date:  1973-07       Impact factor: 4.406

6.  Prenatal diagnosis of chronic granulomatous disease.

Authors:  P E Newburger; H J Cohen; S B Rothchild; J C Hobbins; S E Malawista; M J Mahoney
Journal:  N Engl J Med       Date:  1979-01-25       Impact factor: 91.245

7.  Linkage relationship of the Xg and Xk loci.

Authors:  W L Marsh
Journal:  Cytogenet Cell Genet       Date:  1978

8.  Linkage of genes for chronic granulomatous disease and Xg.

Authors:  G Wolff; C R Müller; A Jobke
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 9.  High-resolution chromosome analysis in clinical medicine.

Authors:  J J Yunis; M E Chandler
Journal:  Prog Clin Pathol       Date:  1978

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
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  29 in total

1.  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

2.  Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.

Authors:  M A Musarella; A Burghes; L Anson-Cartwright; M M Mahtani; R Argonza; L C Tsui; R Worton
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

Review 3.  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

4.  Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

Authors:  C J Bertelson; A O Pogo; A Chaudhuri; W L Marsh; C M Redman; D Banerjee; W A Symmans; T Simon; D Frey; L M Kunkel
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

5.  PU.1 as an essential activator for the expression of gp91(phox) gene in human peripheral neutrophils, monocytes, and B lymphocytes.

Authors:  S Suzuki; A Kumatori; I A Haagen; Y Fujii; M A Sadat; H L Jun; Y Tsuji; D Roos; M Nakamura
Journal:  Proc Natl Acad Sci U S A       Date:  1998-05-26       Impact factor: 11.205

6.  A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

Authors:  M C Dinauer; J T Curnutte; H Rosen; S H Orkin
Journal:  J Clin Invest       Date:  1989-12       Impact factor: 14.808

7.  Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Authors:  Clara Bionda; Xing Jun Li; Robin van Bruggen; Michel Eppink; Dirk Roos; Françoise Morel; Marie-José Stasia
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

Review 8.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Mapping approaches to gene identification in humans.

Authors:  R L White; J M Lalouel; G M Lathrop; M F Leppert; Y Nakamura; P O'Connell
Journal:  West J Med       Date:  1987-10

10.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025
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