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Characterization of the p67phox gene: genomic organization and restriction
fragment length polymorphism analysis for prenatal diagnosis in chronic
granulomatous disease
RT Kenney, HL Malech, ND Epstein, RL Roberts and TL Leto
Laboratory of Host Defenses, National Institute of Allergy and Infectious
Diseases, National Institutes of Health, Bethesda, MD 20892.
The genetic defect in the p67phox-deficient form of chronic granulomatous
disease (CGD) follows an autosomal recessive pattern of inheritance. When
genomic DNA from normal individuals is digested with HindIII and probed
with p67phox cDNA an allelic restriction fragment length polymorphism
(RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the
p67phox gene using the cDNA and sequenced the exon/intron boundaries,
mapping 16 exons on the 40-kb gene. The polymorphic region was then
sequenced to identify the inheritance pattern of amniocentesis-derived
fetal cells by genomic amplification. The proband, a 9-year-old female
patient with p67phox-deficient CGD, and her phenotypically normal mother
are homozygous for the RFLP marker, whereas the father and two brothers are
heterozygous. The fetus was shown to be heterozygous as well, showing it
had inherited at least one normal p67phox gene from the father and that it
was predicted to have a normal phenotype. Cord blood samples at birth
showed normal oxidative function. Amplification allows rapid detection of
the inheritance pattern for fetal diagnosis in informative families. We
report the genomic structure of p67phox and an amplification-based method
for detection of the marker on chromosome 1q25, used here for prenatal
diagnosis of CGD.
Volume 82,
Issue 12,
pp. 3739-3744,
12/15/1993
Copyright © 1993 by The American Society of Hematology
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