A 15-BASE PAIR (BP) PALINDROMIC INSERTION ASSOCIATED WITH A 3-BP DELETION IN EXON-10 OF THE GP91-PHOX GENE, DETECTED IN 2 PATIENTS WITH X-LINKED CHRONIC GRANULOMATOUS-DISEASE
T. Ariga et al., A 15-BASE PAIR (BP) PALINDROMIC INSERTION ASSOCIATED WITH A 3-BP DELETION IN EXON-10 OF THE GP91-PHOX GENE, DETECTED IN 2 PATIENTS WITH X-LINKED CHRONIC GRANULOMATOUS-DISEASE, Human genetics, 96(1), 1995, pp. 6-8
Molecular genetic studies were carried out on two maternal cousins wit
h X-linked chronic granulomatous disease (X-CGD). Sequencing analysis
of polymerase chain reaction (PCR)-amplified DNA fragments from both p
atients revealed a 15-base pair (bp) insertion associated with a 3-bp
deletion in exon 10 of the cytochrome b heavy chain (gp91-phox) gene.
Results of,oenomic PCR with primers flanking the insertion/deletion si
te confirmed the mutation, and also demonstrated that their mothers we
re carriers for the disease. Palindromic sequences were found in the 1
5-bp insertion as well as in the flanking 3-bp deletion site, which ma
y play a role in the mechanism of this mutation.