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J Bal

Publications and source records attributed to J Bal.

At least 19 recordsLinked to original sources
PubMed2006

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.

Adolescent↗
PubMed2005

Passive transfer of maternal antibodies and their existence in eggs, larvae and fry of Indian major carp, Labeo rohita (Ham.).

Lack of immune competence in the early stages of life leads to severe mortality in larval stages of different fish species including Indian major carp (IMC). Investigation through indirect enzyme linked immunosorbent assay (ELISA) and agglutination test revealed a significant increase in specific serum antibody response in the brood fish of Indian major carp, Labeo rohita (Ham.) following immunisation with a virulent Aeromonas hydrophila bacterin 1 month prior to breeding, which was transferred to larvae through the egg. No significant differences (P > 0.05) in mean antibody levels in larvae at the 1st and 2nd weeks post-hatch was recorded while a slight rise in antibody level was observed in 3-week-old fry, perhaps due to exposure to A. hydrophila present in the aquatic environment. Immunised brood fish serum, egg and larval extracts in non-reducing sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) and subsequent western blot analysis revealed an antibody molecule of approximate molecular weight 210 kDa. On challenge with virulent A. hydrophila, a significant reduction in mortality was recorded in immunised larvae and fry (58.0, 43.75 and 37.14% in the 1st, 2nd and 3rd week, respectively) relative to control fish (87.0, 79.0 and 76.4% in 1st, 2nd and 3rd week, respectively). The present study indicated the role of maternally derived antibody in protection of hatchlings of Indian major carp against specific pathogens.

Aeromonas hydrophila↗
PubMed2001

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

We report an analysis of 102 unrelated Polish patients with profound prelingual deafness for mutations in the GJB2 gene (OMIM #220290). Mutations were found in 41/102 (40%) subjects. Among mutated alleles, 35delG was prevalent and present in 88%. In nine alleles, different mutations were found: M34T, Q47X, R184P, and 313del14 (found in 6 patients). The results prove mutations in the GJB2 gene are responsible for much hereditary nonsyndromic deafness in Poland, with a strong prevalence of the 35delG mutation. We have also found a high carrier frequency (1/50) for the 35delG mutation in the Polish population.

Adolescent↗
PubMed2001

Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.

Hereditary hyperphenylalaninemia (HPA) is a disorder of amino acid metabolism and results from an insufficiency of hepatic phenylalanine hydroxylase (PAH). HPA phenotypes form a spectrum ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninemia (MHP). The phenotypic diversity reflects heterogeneity at the molecular level, and more than 320 different mutations in the PAH gene are known to date. The association of 3 mutations (R408W, IVS10 and A403V) common in different European populations with a variable number tandem repeat (VNTR) and short tandem repeat sites (minihaplotype) in the PAH gene was examined in a group of Polish PKU and MHP patients. Additionally, minihaplotypes were established for another 16 mutations. The presented data support the hypothesis that the R408W/VNTR3/STR238 allele originated among pre-Indo-Europeans on the territory in present-day Lithuania and Belarus. Mutation IVS10nt-11g-->a (IVS10) is strongly associated with VNTR7/STR250 minihaplotype and is possibly of Mediterranean origin.

Haplotypes↗
PubMed2000

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.

Expression of major histocompatibility complex (MHC) class II genes is controlled at the transcriptional level by at least four trans-acting genes, CIITA, RFXANK, RFX5, and RFXAP. Defects in these regulatory genes result in the absence of MHC class II molecule expression and, thereby, cause a combined immunodeficiency. MHC class II deficiency is inherited as an autosomal recessive trait. Since the first description of the disease, about 70 patients from 50 families have been reported. Forty-three of these families have been classified into four complementation groups: A, B, C, and D. In the largest group, B, the majority of patients are of North African origin. In two of these patients, the same mutation in the RFXANK gene (752delG-25) was identified. We performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 752delG-25 mutation in 17. All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning the RFXANK locus.

Africa, Northern↗
PubMed2000

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS 17bTA-IVS 17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.

Alleles↗
PubMed2000

[The attempt to identify mutations in TIGR gene in Polish patients with primary open angle glaucoma].

PURPOSE: The case work presents studies on the identification of the most frequent TIGR mutations in Polish population with primary open angle glaucoma. The TIGR gene was identified in a GLC1A locus on chromosome 1 (1q) in a family with juvenile primary open angle glaucoma. The gene encodes TIGR protein (trabecular meshwork inducible gluco-corticoid response protein)--trabecular meshwork glucoprotein. MATERIAL AND METHODS: Ophthalmologic examination was performed in twenty subjects with juvenile primary open angle glaucoma. The blood samples were taken for DNA analyses. RESULTS: Neither any mutations nor polymorphic changes in TIGR gene were found. CONCLUSION: Our studies have not identified any mutations in exon 3 of TIGR gene. We cannot exclude, however, that mutations are localised in other exons or regulatory region of examined gene. The questions how many genes, how many mutations of these genes and how often they contribute to glaucoma in general population are still open? These are important questions to answer in order to get closer to understanding extremely complicated aetiology of glaucoma.

Adolescent↗
PubMed2000

[Genetic studies on primary open angle glaucoma].

Case work presents the newest studies on molecular genetics in primary open angle glaucoma. The molecular genetics in all types of glaucoma have been a subject of investigations for the last few years. As a result, two loci (GLC3A and GLC3B) have been identified for primary congenital glaucoma, one locus (GLC1A) for juvenile primary open angle glaucoma and further two loci (GLC1B and GLC1C) for adult-onset primary open angle glaucoma. The gene TIGR (trabecular meshwork inducible glucocorticoid response protein) localised in GLC1A was described last year for the first time, thereafter there were trials on mutations within this gene conducted successfully. In this review there are studies presenting the mapping of the first five GLC loci and identification of mutations.

Adult↗
PubMed2000

[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia].

Obstructive azoospermia is one of the symptoms of congenital bilateral absence of the vas deferens (CBAVD)--disease which is suggested as primarily genital form of cystic fibrosis. CBAVD is a result of mutations and polymorphisms in CFTR gene. We studied 9 the most common mutations and identified 3 mutations (delta F508, R117H, G542X). The study showed that: 37.1% of CBAVD patients (13 out of 35 examined patients) carried mutations in a single or both copies of the gene. We also found the increased frequency of IVS8-5T allele in this group. No increased frequency of mutations in CFTR gene was found in group of men with incorrect spermatogenesis.

Adult↗
PubMed1999

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.

Phenylketonuria (PKU), an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. On molecular level more than 350 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability. Mutations located in exon 3 coding for a part of the regulatory domain of the PAH enzyme cause classical PKU, mild PKU, and mild hyperphenylalaninemia (MHP). We describe the phenotypic effects of seven mutations in exon 3 of the PAH gene (R68G, R68S, R71H, S87R, P89S, I95F, and A104D). We propose that mutations located between amino acid positions 71 through 94 cause MHP.

Adolescent↗
PubMed1999

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].

Based on the Polish Registry of Cystic Fibrosis the analysis of alive CF adults (18 y.a. and more) was performed. Out of 156 Polish CF adults, in 106 (68.0%) identification of the CFTR gene mutations was performed. Relative frequencies of 24 mutations of CFTR gene mutations is 72.2%. Frequencies of the most common mutations are: delta F508 49.06%, 3849 + 10kbCT 8.96%, G542X 1.89%; in Polish CF adults mutations other than delta F508 comprise 23.13% of CF alleles. The most common genotype delta F508/delta F508 occurs with the frequency 22.6%, significantly lower than in CF children; genotype delta F508/3849 + 10kbCT occurs with the frequency 11.3%, and this value is significantly higher than in other age groups.

Adult↗
PubMed1998

Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia.

Background: 6-Pyruvoyl-tetrahydrobiopterin synthase (PTPS) is required for biosynthesis of tetrahydrobiopterin, the cofactor of various enzymes including the hepatic phenylalanine hydroxylase. Mutations in the PTS gene result in a variant type of hyperphenylalaninemia, requiring cofactor replacement therapy for treatment. Methods and Results: Four Polish patients with PTPS deficiency were screened for mutations in the PTS gene. Three novel mutations E35G, N36K, and F100V were identified. In one patient, a known mutation D136V was identified in both PTS alleles. Conclusions: Mutation D136V present in both alleles was proposed to be connected with a mild form of PTPS deficiency. The other three mutations were found in heterozygous patients with a central type of PTPS deficiency. D136V mutation is a common mutation in the Polish population.

Journal Article↗
PubMed1997

Molecular basis of mild hyperphenylalaninaemia in Poland.

The major cause of the different forms of hyperphenylalaninaemia (HPA) is mutations in the gene encoding phenylalanine hydroxylase (PAH). The aim of this study was to determine the mutations responsible for mild forms of HPA and to relate different clinical phenotypes of HPA patients to their PAH genotypes. Four "mild" mutations, including the most frequent A403V and R297H mutations, occurred exclusively in mild hyperphenylalaninaemia (MHP). Mutations A104D, R243Q, R241H, and Y414C were detected in patients with mild phenylketonuria (mild PKU) only. These results may be useful in establishing a molecular differential diagnosis for PAH deficiency in Poland.

Humans↗
PubMed1996

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

Results of cytogenetic studies, performed in a group of 201 institutionalized mentally retarded males, are presented. At least two cytogenetic methods for eliciting the Xq27.3 fragile site, recommended by the Fourth International Workshop on the Fra X Syndrome were used. A subgroup of 67 out of 201 studied males was also examined using molecular methods. In 6 (2.9%) males fra X syndrome was diagnosed. All cytogenetic positive results were confirmed by molecular analysis. Five patients had full expansion CGG repeats and one had both premutation and full mutation. Postulated frequency of fra X syndrome in Polish population being 0.2-0.4/1,000 males seems to be lower than it could be expected on the basis of previous literature data.

Fragile X Syndrome↗