Summary of Molecular Findings in p67-phox–Deficient Patients
| Patients . | p67-phox Protein (Immunoblotting) . | p67-phox mRNA (Northern blot) . | Sequence Findings in Genomic DNA . | Predicted Defects . |
|---|---|---|---|---|
| LC | Not detected | ND | C304 → T (Homozygous) | Arg102 → Stop |
| MD and AD | Not detected | 9.3% | Del 1169-1173 (Homozygous) | Premature stop at codon 401 |
| AA | Not detected | ND | Del 1169-1173 (Homozygous) | Premature stop at codon 401 |
| LP | Not detected | 5% | G → A + 1 In 4 (Homozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| SG and CG | Not detected | 7% | G → A + 1 In 4 (Heterozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| Del A728 (Heterozygous) | Premature stop at codon 270 | |||
| G−185 → A | Possible polymorphisms | |||
| G−181 → A | ||||
| C−24 → T (Heterozygous) | ||||
| NS | Not detected | 38.7% | G → A + 1 In 4 (Heterozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| Del 55-63 (Heterozygous) | Del Lys19, Lys20, Asp21 | |||
| C1183 → T (Heterozygous) | Arg395 → Trp |
| Patients . | p67-phox Protein (Immunoblotting) . | p67-phox mRNA (Northern blot) . | Sequence Findings in Genomic DNA . | Predicted Defects . |
|---|---|---|---|---|
| LC | Not detected | ND | C304 → T (Homozygous) | Arg102 → Stop |
| MD and AD | Not detected | 9.3% | Del 1169-1173 (Homozygous) | Premature stop at codon 401 |
| AA | Not detected | ND | Del 1169-1173 (Homozygous) | Premature stop at codon 401 |
| LP | Not detected | 5% | G → A + 1 In 4 (Homozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| SG and CG | Not detected | 7% | G → A + 1 In 4 (Heterozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| Del A728 (Heterozygous) | Premature stop at codon 270 | |||
| G−185 → A | Possible polymorphisms | |||
| G−181 → A | ||||
| C−24 → T (Heterozygous) | ||||
| NS | Not detected | 38.7% | G → A + 1 In 4 (Heterozygous) | Skipping of Ex 3 and 4, Ex 4, or 5 last nts of Ex 4 |
| Del 55-63 (Heterozygous) | Del Lys19, Lys20, Asp21 | |||
| C1183 → T (Heterozygous) | Arg395 → Trp |
Abbreviation: ND, not done.