Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
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.
Frey
D
D
Institute of Medical Genetics, University of Zurich.
Mächler
M
M
Seger
R
R
Schmid
W
W
Orkin
S H
SH
D000745:Anemia, Hemolytic, Congenital / Q000150:complications*; D000941:Antigens / Q000235:genetics*; D001789:Blood Group Antigens; D002648:Child; D002872:Chromosome Deletion; D005260:Female; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics*; D006801:Humans; D007626:Kell Blood-Group System; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000648:ultrastructure*
D000941:Antigens; D001789:Blood Group Antigens; D007626:Kell Blood-Group System