molecular analysis of four cases of chronic granulomatous disease caused by defects in ncf-2: the gene encoding the p67-phox.
نویسندگان
چکیده
chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder, is caused by mutation in any one of the genes encoding components of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf2 in 4 cgd patients with p67-phox defect in iran. these patients showed classical cgd symptoms. ncf2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304c>t (arg102x) in one case and a ca deletion in exon 13 (leu346fsx380) in one brother and sister;the latter is a new mutation which has not been reported in previous studies. in another patient in whom the attempts to amplify exon 2 individually from genomic dna were unsuccessful, pcr amplification of exon 2 revealed no band of this exon on agarose gel. a pcr amplification mix of exon 2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. although a gross deletion in other exons of ncf2 has been previously reported, a large deletion encompassing exon 2 has been not reported yet. this abstract was also presented in esid 2012, florence, italy.
منابع مشابه
Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.
Chronic granulomatous disease (CGD), a rare inherited primary immunodeficiency disorder, is caused by mutation in any one of the genes encoding components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. NCF2 gene (encoding P67-phox component) is one of them and its mutation is less common to cause CGD (around 5-6%). Here, we assessed mutation analysis of NCF2 in 4 CGD pat...
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Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any one of 4 genes encoding phagocyte NADPH oxidase subunits. Unlike other CGD subtypes, in which there is great heterogeneity among mutations, 97% of affected alleles in patients previously reported with A47(0) CGD carry a single mutation, a GT deletion (DeltaGT) in exon 2 of the p47-phox gene, NCF-1. This u...
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عنوان ژورنال:
iranian journal of allergy, asthma and immunologyجلد ۱۱، شماره ۴، صفحات ۳۴۰-۳۴۴
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