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Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus


Frey, Daniel; Mächler, Marco; Seger, Reinhard; Schmid, Werner; Orkin, Stuart H. (1988). Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. Blood, 71(1):252-255.

Abstract

In a patient suffering from X-linked chronic granulomatous disease (X- CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus.

Abstract

In a patient suffering from X-linked chronic granulomatous disease (X- CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Biochemistry
Life Sciences > Immunology
Health Sciences > Hematology
Life Sciences > Cell Biology
Uncontrolled Keywords:Cell Biology, Hematology, Immunology, Biochemistry
Language:English
Date:1 January 1988
Deposited On:27 Jan 2023 10:58
Last Modified:28 Apr 2024 01:47
Publisher:Elsevier
ISSN:0006-4971
Additional Information:Prof. Werner Schmid (Institutsleitung bis 1996)
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1182/blood.V71.1.252.252
PubMed ID:3334897
Other Identification Number:Corpus ID: 24278965
Project Information:
  • : FunderSNSF
  • : Grant ID3.964-0.85
  • : Project Title
  • : FunderSNSF
  • : Grant ID3.912-0.85
  • : Project Title
  • Content: Published Version
  • Language: English
  • Licence: Creative Commons: Attribution 4.0 International (CC BY 4.0)