Search results

1

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

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Haack B., Kupka S., Ebauer M., Siemiatkowska A., Pfister M., Kwiatkowska J., Erecinski J., Limon J., Ochman K., Blin N.

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issue 3

375-381

EN

Patients with the long QT syndrome (LQTS) suffer from cardiac arrhythmias that can lead to abrupt loss of consciousness and sudden death, already in young individuals. Thus, an early diagnosis of LQTS is essential for patients and their family members. So far, six genes (KCNQ1, HERG, SCN5A, ANK2, KCNE1, KCNE2) have been demonstrated to be involved in the development of LQTS. Since this syndrome is genetically heterogeneous and large-sized families are often not available for linkage analysis, alternative tools are required for a genetic diagnosis. To investigate genes with numerous exons, like KCNQ1, HERG, SCN5A and ANK2, segregation analysis of a Polish Romano-Ward family with eight members was performed as a reliable method faster than linkage analysis or direct sequencing. To test these four LQT loci, an appropriate selection of microsatellite markers covering different chromosomal regions was applied. Furthermore, two small genes KCNE1 and KCNE2 (at the LQT5 and LQT6 loci), and the SGK1 gene (encoding a kinase regulating KCNE1 and SCN5A channels) were sequenced. All six LQT loci and the SGK1 gene were excluded by these analyses, thus a different pathogenic mechanism of LQT syndromes can be presumed.

2

A clinical, cytogenetic and molecular study in Prader Willi patients

100%

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vol. 38

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issue 2

205-216

EN

Twenty three patients with a putative diagnosis of Prader Willi syndrome (PWS) were reassessed clinically and then examined by cytogenetic and molecular techniques. Nineteen patients fulfilled the diagnostic criteria for PWS and the remaining four were judged to have atypical PWS. Definite molecular defects were detected in all clinically typical PWS patients but one. A deletion of part of chromosome 15q could be identified molecularly in 14 patients (74%) and maternal disomy for chromosome 15 in four (21%). In all, except one, PWS patients with molecularly detected deletions, the deletion was also identified by cytogenetic studies. Cytogenetic deletions were suspected in two of the atypical PWS patients. However, based on the results of scoring the diagnostic criteria for PWS and on the PW71B methylation test, we were able to rule out PWS in all of our atypical patients. Our study confirms observations that both clinical and cytogenetic investigations can provide misdiagnoses of PWS in some patients, and the first, simple and fast investigation, which can confirm the PWS in most, if not all PWS patients, is molecular analysis by the methylation test.

3

Saturating rye genetic map with amplified fragment length polymorphism (AFLP) and random amplified polymorphic DNA (RAPD) markers

100%

Bednarek P. T., Masojc P., Lewandowska R., Myskow B.

Journal of Applied Genetics

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2003

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vol. 44

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issue 1

21-33

EN

A linkage map of rye, previously developed using DS2 ? RXL10 F2 mapping population, was enriched with 179 AFLP and 19 RAPD marker loci. The current map covers 1386 cM and contains 480 markers including 200 RFLPs, 179 AFLPs, 88 RAPDs, 12 protein loci and one dwarfing gene. AFLPs generated by EcoRI/MseI primer combinations were distributed over the entire genome as distinct loci or clusters of 2-14 tightly linked DNA fragments. New marker loci mapped distally to the existing framework, significantly increased coverage of chromosomes 1R, 2R and 5R. The average marker distance is now 2.9 cM, but in seven regions the closest markers are still more than 20 cM apart. A detailed description of the newly mapped AFLP and RAPD loci is presented. The relationship with other published rye maps is discussed.

4

Molecular identification of hairtail species (Pisces: Trichiuridae) based on PCR-RFLP analysis of the mitochondrial 16S rRNA gene

100%

Chakraborty A., Aranishi F., Iwatsuki Y.

Journal of Applied Genetics

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2005

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vol. 46

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issue 4

381-385

EN

A rapid PCR-RFLP analysis was designed to identify 3 closely related species of hairtails: Trichiurus lepturus, T. japonicus, and Trichiurus sp. 2, basing on partial sequence data (600 bp) of the mitochondrial DNA encoding the 16S ribosomal RNA (16S rRNA) gene. Restriction digestion analysis of the unpurified PCR products of these 3 species, using EcoRI and VspI endonucleases, generated reproducible species-specific restriction patterns showing 2 fragments (250 bp and 350 bp) for T. lepturus in EcoRI digestion and 2 fragments (196 bp and 404 bp) for T. japonicus in VspI digestion, whereas no cleavage was observed for Trichiurus sp. 2 in both EcoRI and VspI digestions. The PCR-RFLP technique developed in this study proved to be a rapid, reliable and simple method that enables easy and accurate identification of these 3 closely related species of the genus Trichiurus.

5

MspI polymorphisms in the 3rd intron of the swine POU1F1 gene and their associations with growth performance

100%

Song C., Gao B., Teng Y., Wang X., Wang Z., Li Q., Mi H. F., Jing R., Mao J.

Journal of Applied Genetics

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2005

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vol. 46

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issue 3

285-289

EN

The study aimed to compare MspI polymorphisms in the 3rd intron of the porcine gene encoding the pituitary-1 transcription factor (Pit-1, renamed as POU1F1) among 5 breeds and to determine the associations between its genotypes and growth performance in a commercial pig population by using the PCR-RFLP technique. Significant differences in genotypic and allelic frequencies were found between the meat-type and fat-type breeds (P < 0.05), and between miniature pigs and others (P < 0.05). No breed deviated from the Hardy-Weinberg equilibrium (verified by chi-square test). The general linear model analysis revealed that higher body weight on day 180 (BW180) and average daily gain (ADG) were significantly associated with POU1F1 DD genotype (P < 0.05). The differences in BW180 and ADG between DD pigs and both CD and CC pigs were significant (P < 0.05), and the DD pigs had a significantly higher body weight on day 45 (BW45) and on day 70 (BW70) than CC pigs (P < 0.05). All measured growth traits, except for body weight at birth (BWB), showed higher values in DD pigs. The D allele had a favorable positive effect on growth traits. Thus POU1F1 is a potential major gene or marker for growth traits.

6

AN 11-YEAR-OLD BOY WITH DOWN SYNDROME PHENOTYPE AND PARTIAL DUPLICATION IN 21Q11.2-Q21 REGION

100%

CHOMIAK P. J., JANECZKO M.

Zeszyty Naukowe Towarzystwa Doktorantów Uniwersytetu Jagiellońskiego. Nauki Ścisłe

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2011

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issue 3

53-57

EN

We report a clinical case of an 11-year-old boy with de novo partial duplication of chromosome 21st pair and some clinical features of Down syndrome. Using hr – CGH method (high resolution Comparative Genomic Hybridization) we detected a quantitative change (a duplication) in 21q21 – q11.2 region. To confirmed the results of hr-CGH analysis we used Quantitative Fluorescent Real Time PCR method with four primers for two different genes located in duplication region.

7

Frequency of lymphocytic XX/XY chimerism in Leine sheep coming from heterosexual twin and multiple birds

100%

Szatkowska I.

Journal of Applied Genetics

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1995

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vol. 36

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issue 4

373-378

EN

The performed cytogenetic analysis included 454 young Leine ewes, aged 2-8 months, coming from heterosexual twins and multiples.Out of them, the studied 431 animals had a normal diploid chromosome number - 54,XX.Leukocytic 54,XX/54,XY chimerism was identified in 23 young ewes, which makes 5.06% of the studied group of animals.

8

Presence of env-like sequences in Quercus suber retrotransposons

100%

Carvalho M., Ribeiro T., Viegas W., Morais-Cec?lio L., Rocheta M.

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vol. 51

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issue 4

461-467

EN

The main difference between LTR retrotransposons and retroviruses is the presence of the envelope (env) gene in the latter, downstream of the pol gene. The env gene is involved in their infectious capacity. Here we report the presence of env-like sequences in the genome of Quercus suber (cork oak), one of the most economically important Portuguese species. These gene sequences were isolated through DNA amplification between RNaseH conserved motifs and 3' LTR, based on the structure of copia retrotransposons. Phylogenetic analysis revealed that almost all the clones isolated are clustered with Cyclops-2, a Ty3-gypsy element identified in Pisum sativum, except one clustered with gypsy and copia retroelements found in different species. This suggests the existence of a potential ancestral sequence of the env gene, prior to the separation of Ty3-gypsy and Ty1-copia retrotransposons. Additionally, the isolated env-like sequences showed 26?39% of homology with env-like sequences characterized in viruses. The origin of env-like sequences in retrotransposons from host plant taxa is discussed.

9

Wide hybridization in the Triticeae involving Hordeum, Triricum, Triticale and Hordeum x Secale

100%

Wojciechowska B., Pudelska H.

Genetica Polonica

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1994

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vol. 35

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issue 4

221-230

EN

Intergeneric hybridization was carried out between various accessions of Hordeum jubatum (4x) and cultivars of Triticum aestivum (6x) and Triticale (6x) as well as T.monococcum (2x) and between cultivars of Triticum aestivum (6x) and the hybrid (Horodeum jubatum 4x X Secale cereale 4x) in both directions.The hybrid progeny was obtained via embryo culture from crosses of H.jubatum x T.aestivum and T.aestivum x(H.jubtum 4x X S.cereale 4x).The hybrid of H.jubatum x T.aestivum was produced at the frequency of 1.7% in relation to pollinated florets and five hybrids of T.aestivum x (H.jubatum 4x x S.cereale 4x) from successful combinations were produced at the frequency of 2.00-4.88%.The hybrids exibited varitionin somatic chromosome number.In meiocytes of two T.aestivum x (H.jubatum 4x X S.cereale 4x) plants a high chromosome instability was also found.The chromosomes were associated mostly as univalents, but some pairings (0.03-3.50 per cell) mainly as rod bivalents were observed.

10

Differences in the inheritance stability of kanamycin resistance between transgenic cucumbers (Cucumis sativus L.) containing two constructs

100%

Yin Z., Szwacka M., Malinowski R., Malepszy S.

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issue 3

307-314

EN

A phenotypic segregation of kanamycin resistance conferred by nosnptII was investigated in two groups of transgenic cucumber lines one containing the PR-2duidA-nosnptII construct and the other with the thaumatinII-nosnptII construct to the third and fifth generation, respectively. Expression of the nptII gene was more stable and predictable in the progeny of the PR-2d lines than that of thaumatin lines. In T2 and T3 generations representing seven PR-2d primary transformants, 78% of the hemizygous progenies exhibited a segregation ratio consistent with Mendelian inheritance; non-Mendelian ratio occurred in the remaining 22%. Mendelian segregation was observed in 46% of the hemizygous progenies derived from 11 thaumatin primary transformants. The segregation ratio for two and three independent loci appeared in single PR-2d and thaumatin lines, respectively.

11

The frequency of satelite associations in parents of children with trisomy 21

100%

Ferenc T., Bratkowska W., Barczyk A., Kochanska H., Orlowska S., Byczkiewicz F.

Journal of Applied Genetics

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1995

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vol. 36

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issue 1

81-88

EN

The paperr presents the frequency of satellite associations (SA) of acrocentric chromosomes in 11 mothers and 11 fathers of children with trisomy 21 with reference to meiotic and mitotic nondisjunction.The control group consisted of 60 individuals of the both sexes at the age of 20-45.Satelite associations were investigated in the metaphase plates obtained from the culture of peripheral blood lymphocytes.The association index values (AI) in six mothers and six fatheers exceeded the mean AI value plus 2 standard deviations noted for the control group of women and men.The mean AI values for chromosome 21 in the group of fathers and mothers of children with trisomy 21 were significantly higher in comparison to the control of man and women.Associations 13-21, 21-21, 21-22 in the fgroup of mothers and 13-21, 15-21, 21-21, 21-22 in the group of fathers were observed more frequently than in control group.Associations 13-13-21, 13-21-21, 13-21-2, 21-21-22 occured more frequently in the group of parents of children with trisomy 21 than in the control.

12

Genetic background of cutaneous forms of lupus erythematosus: update on current evidence

100%

Osmola A., Namysl J., Jagodzinski P. P., Prokop J.

Journal of Applied Genetics

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2004

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vol. 45

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issue 1

77-86

EN

This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk factor for this condition. Individual susceptibility to lupus erythematosus may be determined by a combination of specific polymorphisms of genes encoding multiple cytokines, adhesion molecules, and cellular proteins. This condition may lead to an abnormal expression of immunoregulatory molecules and finally results in the development or exacerbation of the disease. Recently also the role of endogenous retroviral sequences in the pathogenesis of autoimmunity has been discussed.

13

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

100%

Pietrzak J., Mrasek K., Obersztyn E., Stankiewicz P., Kosyakova N., Weise A., Cheung S. W., Ca W. W., vo_ E. F., Mazurczak T., Bocian E., Liehr T.

Journal of Applied Genetics

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2007

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vol. 48

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issue 2

167-175

EN

Small supernumerary marker chromosomes (sSMCs) are a morphologically heterogeneous group of additional structurally abnormal chromosomes that cannot be identified unambiguously by conventional banding techniques alone. Molecular cytogenetic methods enable detailed characterization of sSMCs; however, in many cases interpretation of their clinical significance is problematic. The aim of our study was to characterize precisely sSMCs identified in three patients with dysmorphic features, psychomotor retardation and multiple congenital anomalies. We also attempted to correlate the patients' genotypes with phenotypes by inclusion of data from the literature. The sSMCs were initially detected by G-banding analysis in peripheral blood lymphocytes in these patients and were subsequently characterized using multicolor fluorescence in situ hybridization (M-FISH), (sub)centromere-specific multicolor FISH (cenM-FISH, subcenM-FISH), and multicolor banding (MCB) techniques. Additionally, the sSMCs in two patients were also studied by hybridization to whole-genome bacterial artificial chromosome (BAC) arrays (array-CGH) to map the breakpoints on a single BAC clone level. In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. It is a second neocentric sSMC(2) in the literature and the first marker chromosome derived from the terminal part of 2q. In the other two patients, two sSMCs were found, as M-FISH detected additional sSMCs that could not be characterized in G-banding analysis. In patient MK, each of four cell lines contained der(4)(:p11.1->.q12:) accompanied by a sSMC(18): r(18)(:p11.2->q11.1::p11.2->q11.1:), inv dup(18)(:p11.1->q11.1::q11.1->p11.1:), or der(18) (:p11.2->q11.1::q11.1->p11.1:). In patient NP, with clinical features of trisomy 8p, three sSMCs were characterized: r(8)(:p12->q11.1::q11.1->p21:) der(8) (:p11.22->q11.1::q11.1->p21::p21->p11.22:) and der(21)(:p11.1->q21.3:). The BAC array results confirmed the molecular cytogenetic results and refined the breakpoints to the single BAC clone resolution. However, the complex mosaic structure of the marker chromosomes derived from chromosomes 8 and 18 could only be identified by molecular cytogenetic methods. This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes.

14

High-fat diet leads to a decreased methylation of the Mc4r gene in the obese BFMI and the lean B6 mouse lines

100%

Widiker S., Karst S., Wagener A., Brockmann G. A.

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vol. 51

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issue 2

193-197

EN

The melanocortin-4 receptor (Mc4r) plays an important role in body-weight regulation. This study examines the methylation status and expression levels of the Mc4r gene in response to a standard and a high-fat diet in the obese Berlin fat mouse inbred (BFMI) line and the lean C57BL/6NCrl (B6) line of Mus musculus. The methylation status of CpG sites located within the Mc4r exon was analyzed by bisulfite genomic sequencing of genomic DNA of brain tissues, and gene expression analysis was performed by real-time PCR. In both lines, the methylation of CpGs 1-8 (near the transcription start) was lower than methylation of CpGs 9-16 (located towards the end of the selected amplicon). On the standard diet, the methylation status did not differ between the lines. In response to high-fat diet, methylation of the CpGs near the transcription start was decreased in both lines. The Mc4r gene expression, however, was only marginally increased in BMFI mice, whereas there was no change in B6 mice. The results suggest that a long-term high-fat diet might have an effect on the methylation status of the Mc4r gene. However, the effect of methylation on Mc4r expression seems to be a variable compensated by other regulating factors in a line-specific manner.

15

Importance of eps genes from Bacillus subtilis in biofilm formation and swarming

100%

Nagorska K., Ostrowski A., Hinc K., Holland I. B., Obuchowski M.

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vol. 51

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issue 3

369-381

EN

Unicellular organisms naturally form multicellular communities, differentiate into specialized cells, and synchronize their behaviour under certain conditions. Swarming, defined as a movement of a large mass of bacteria on solid surfaces, is recognized as a preliminary step in the formation of biofilms. The main aim of this work was to study the role of a group of genes involved in exopolysaccharide biosynthesis during pellicle formation and swarming in Bacillus subtilis strain 168. To assess the role of particular proteins encoded by the group of epsI-epsO genes that form the eps operon, we constructed a series of insertional mutants. The results obtained showed that mutations in epsJ-epsN, but not in the last gene of the eps operon (epsO), have a severe effect on pellicle formation under all tested conditions. Moreover, the inactivation of 5 out of the 6 genes analysed caused total inhibition of swarming in strain 168 (that does not produce surfactin) on LB medium. Following restoration of the sfp gene (required for production of surfactin, which is essential for swarming of the wild-type bacteria), the sfp+ strains defective in eps genes (except epsO) generated significantly different patterns during swarming on synthetic B medium, as compared to the parental strain 168 sfp+.

16

Campylobacter protein oxidation influences epithelial cell invasion or intracellular survival as well as intestinal tract colonization in chickens

100%

Lasica A. M., Wyszynska A., Szymanek K., Majewski P., Jagusztyn-Krynicka E. K.

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vol. 51

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issue 3

383-393

EN

The Dsb family of redox proteins catalyzes disulfide bond formation and isomerization. Since mutations in dsb genes change the conformation and stability of many extracytoplasmic proteins, and since many virulence factors of pathogenic bacteria are extracytoplasmic, inactivation of dsb genes often results in pathogen attenuation. This study investigated the role of 2 membrane-bound oxidoreductases, DsbB and DsbI, in the Campylobacter jejuni oxidative Dsb pathway. Campylobacter mutants, lacking DsbB or DsbI or both, were constructed by allelic replacement and used in the human intestinal epithelial T84 cell line for the gentamicin protection assay (invasion assay) and chicken colonization experiments. In C. coli strain 23/1, the inactivation of the dsbB or dsbI gene separately did not significantly affect the colonization process. However, simultaneous disruption of both membrane-bound oxidoreductase genes significantly decreased the strain's ability to colonize chicken intestines. Moreover, C. jejuni strain 81-176 with mutated dsbB or dsbI genes showed reduced invasion/intracellular survival abilities. No cells of the double mutants (dsbB? dsbI?) of C. jejuni 81-176 were recovered from human cells after 3 h of invasion.

17

Organ-specificity of esterase isoenzymes in Brassica seedlings

100%

Wilkins A., Ratajczak L., Czosnowski E.

Genetica Polonica

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1993

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vol. 34

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issue 2

147-152

EN

in roots epicotyls and leaves of 5-, 6-, and 7-week-old Brassica seedlings were studied. No variation in isoesterase phenotypes was found between individuals within the examined cultivar. Differences in the number and intensity of isoesterase bands between the investigated organs were observed. Distinctive isoesterase patterns were evaluated for each organ. Some esterase isoenzymes are proposed as markers of particular organs: EST 1/1 and EST 1/2 for leaves, whereas EST 2/2 and EST 2/3 for roots. Further studies be aimed at using different organo-specific isoesterase forms as markers of early stages of in vitro organogenesis in Brassica callus tissue culture.

18

Cytoembryology of infertile segregants of the hybrid Lupinus varius L.x L. digitatus Forsk.

100%

Kazimierska E. M., Kazimierski T.

Journal of Applied Genetics

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1995

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vol. 36

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issue 3

215-227

19

Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia

100%

Brozek I., Babinska M., Kardas I., Wozniak A., Balcerska A., Hellmann A., Limon J.

Journal of Applied Genetics

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2003

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vol. 44

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issue 3

401-412

EN

The analysis was performed on bone marrow cells derived from 96 patients with acute leukaemia (AL): 76 with acute myelogenous leukaemia (AML) and 20 with acute lymphoblastic leukaemia (ALL). Aberrations of chromosome 7 were revealed in 20 (21%) of 96 analysed cases: in 14 (18%) with AML and in six (30%) with ALL. Structural aberrations, present in 13 patients (eight with AML and five with ALL), were unbalanced and led to partial monosomy (12 cases) or trisomy (four cases) of chromosome 7. Twelve (86%) out of 14 AML and all the ALL patients with chromosome 7 aberrations had complex karyotypes in their bone marrow cells. Monosomy 7 and 7q losses were frequently observed in the AML group, whereas, in the ALL group, gains in 7q and losses in the short arms constituted most chromosome 7 aberrations. The occurrence of monosomy, or of losses in 7q, results in a worse response to induction therapy in AML patients. The complete remission (CR) rate was significantly lower in this group in comparison to the group of AML patients with a normal karyotype (p = 0.01) in bone marrow cells.

20

Localization of the calreticulin gene mRNA in unpollinated and pollinated styles of Petunia hybrida

100%

Lenartowska M., Lenartowski R., Bednarska E.

Journal of Applied Genetics

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2001

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vol. 42

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issue 1

15-20

EN

The objective of our research on Petunia hybrida is to understand the role of calreticulin in the growth of pollen tubes in the pistil. The aim of this study was the first step: finding out whether CRT gene expression takes place in unpollinated and pollinated styles. It was revealed by in situ hybridization that the transcription of the calreticulin gene takes place in the transmitting cells of unpollinated and pollinated styles and in pollen tubes growing in vivo. The mRNA transcripts of the CRT gene were localized mainly on the surface of endoplasmic reticulum (ER) membranes, both in transmitting cells and in the tip cytoplasm of pollen tubes. The results of this study show that calreticulin can be involved in pollen ? pistil interaction in vivo.

Refine search results

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

A clinical, cytogenetic and molecular study in Prader Willi patients

Saturating rye genetic map with amplified fragment length polymorphism (AFLP) and random amplified polymorphic DNA (RAPD) markers

Molecular identification of hairtail species (Pisces: Trichiuridae) based on PCR-RFLP analysis of the mitochondrial 16S rRNA gene

MspI polymorphisms in the 3rd intron of the swine POU1F1 gene and their associations with growth performance

AN 11-YEAR-OLD BOY WITH DOWN SYNDROME PHENOTYPE AND PARTIAL DUPLICATION IN 21Q11.2-Q21 REGION

Frequency of lymphocytic XX/XY chimerism in Leine sheep coming from heterosexual twin and multiple birds

Presence of env-like sequences in Quercus suber retrotransposons

Wide hybridization in the Triticeae involving Hordeum, Triricum, Triticale and Hordeum x Secale

Differences in the inheritance stability of kanamycin resistance between transgenic cucumbers (Cucumis sativus L.) containing two constructs

The frequency of satelite associations in parents of children with trisomy 21

Genetic background of cutaneous forms of lupus erythematosus: update on current evidence

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

High-fat diet leads to a decreased methylation of the Mc4r gene in the obese BFMI and the lean B6 mouse lines

Importance of eps genes from Bacillus subtilis in biofilm formation and swarming

Campylobacter protein oxidation influences epithelial cell invasion or intracellular survival as well as intestinal tract colonization in chickens