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1

The search for a genetic defect in Polish patients with chronic granulomatous disease

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Jurkowska M., Kurenko-Deptuch M., Bal J., Roos D.
Archivum Immunologiae et Therapiae Experimentalis
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2004
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vol. 52
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issue 6
441-446
EN
Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytic cells are unable to generate superoxide anions. Patients with CGD are predisposed to recurrent bacterial and fungal infections because the superoxide-generating NADPH oxidase activity is needed for efficient killing of microbes. Among the at least 5 subunits creating a functional NADPH oxidase, a molecular defect located in any of the gp91phox, p22phox, p47phox, or p67phox subunits may cause CGD. In this study, 8 patients were diagnosed with CGD on the basis of clinical findings and absence of nitroblue tetrazolium reduction in phagocytes. Southern blot analysis, GeneScan, and direct sequencing were performed to define particular DNA mutations. Among 6 X-linked CGD (X-CGD) patients, 4 different mutations were identified in the X- -linked CYBB gene (encoding gp91phox) by direct sequencing. A novel missense mutation, located in the NADPH-binding region of gp91phox, was found in 2 brothers. One frameshift 1578delA, one splicing 252G->A mutation, and one partial gene deletion were also identified. The molecular defect in the NCF1 gene (encoding p47phox) was established in 2 patients. One was a .GT/.GT homozygote, the other carried, besides this GT deletion on one allele, a unique Phe118stop mutation on the other. In general, the X-CGD patients within the group followed a more severe clinical course than the patients with an NCF1 defect. However, the lack of a straightforward genotype- -phenotype correlation indicates that the clinical severity of CGD depends also on other antimicrobial host-defense systems.
2

Genetic and biochemical background of chronic granulomatous disease

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Jurkowska M., Bernatowska E., Bal J.
Archivum Immunologiae et Therapiae Experimentalis
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2004
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vol. 52
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issue 2
113-120
EN
Chronic granulomatous disease (CGD) is a rare inherited immunodeficency syndrome caused by a profound defect in the oxygen metabolic burst machinery. Activity of NADPH oxidase is absent or profoundly diminished, as at least one of its components (gp91phox, p22phox, p47phox and p67phox) is lacking or non-functional. This review explains the molecular basis of NADPH oxidase dysfunction by the effects of mutations in genes coding for particular oxidase components. Among the four types of CGD, the most common is X- -linked CGD (approximately 65%), with defects in the CYBB gene encoding gp91phox. A wide spectrum of mutations has been described in the CYBB gene with no predominant genotype. The second most common subtype of CGD caused by NCF1 mutation accounts for 30% of CGD patients and is inherited in an autosomal recessive manner, with predominance of a homozygotous .GT deletion in the genotype. The other two CGD subtypes having an autosomal recessive pattern together account for no more than 10% of CGD cases. A strategy for the molecular diagnostics in CGD patients is proposed and principles of genetic counseling are discussed here.
3

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene.

88%
Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.
Journal of Applied Genetics
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1996
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vol. 37
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issue 2
205-215
EN
Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation.Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found.Possible explanations of this result are discussed.With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation.No such difference appeared when affected and normal females with full mutation were compared.The proportion of mutated active X chromosome was significantly higher in mentally retarded females than those without any mantal impairment.
4

Prostaglandin-endoperoxide synthase genes COX1 and COX2 ? novel modifiers of disease severity in cystic fibrosis patients

64%
Czerska K., Sobczynska-Tomaszewska A., Sands D., Nowakowska A., Bak D., Wertheim K., Poznanski J., Zielenski J., Norek A., Bal J.
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vol. 51
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issue 3
323-330
EN
Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in the CFTR gene. However, the clinical outcome of CF pulmonary disease varies remarkably even in patients with the same CFTR genotype. This has led to a search for genetic modifiers located outside the CFTR gene. The aim of this study was to evaluate the effect of functional variants in prostaglandin-endoperoxide synthase genes (COX1 and COX2) on the severity of lung disease in CF patients. To the best of our knowledge, it is the first time when analysis of COX1 and COX2 as potential CF modifiers is provided. The study included 94 CF patients homozygous for F508del mutation of CFTR. To compare their' clinical condition, several parameters were recorded, e.g. a unique clinical score: disease severity status (DSS). To analyse the effect of non-CFTR genetic polymorphisms on the clinical course of CF patients, the whole coding region of COX1 and selected COX2 polymorphisms were analysed. Statistical analysis of genotype-phenotype associations revealed a relationship between the heterozygosity status of identified polymorphisms and better lung function. These results mainly concern COX2 polymorphisms: -765G>C and 8473T>C. The COX1 and COX2 polymorphisms reducing COX protein levels had a positive effect on all analysed clinical parameters. This suggests an important role of these genes as protective modifiers of pulmonary disease in CF patients, due to inhibition of arachidonic acid conversion into prostaglandins, which probably reduces the inflammatory process.
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