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

D Frey; M Mächler; R Seger; W Schmid; S H Orkin

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

Blood. 1988 Jan;71(1):252-5.

Authors

D Frey¹, M Mächler, R Seger, W Schmid, S H Orkin

Affiliation

¹ Institute of Medical Genetics, University of Zurich.

PMID: 3334897

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Hemolytic, Congenital / complications*
Antigens / genetics*
Blood Group Antigens*
Child
Chromosome Deletion*
Female
Genetic Linkage
Granulomatous Disease, Chronic / complications
Granulomatous Disease, Chronic / genetics*
Humans
Kell Blood-Group System*
Male
Pedigree
Syndrome
X Chromosome / ultrastructure*

Substances

Antigens
Blood Group Antigens
Kell Blood-Group System