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  1. 44 Journal of Applied Genetics

  2. 2 Acta Neurobiologiae Experimentalis

  3. 2 Biotechnologia

  4. 1 Folia Biologica

  5. 1 Postępy Higieny i Medycyny Doświadczalnej

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  1. 9 2010

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  3. 3 2008

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  5. 2 2006

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  1. 3 Latos-Bielenska A.

  2. 3 Lubinski J.

  3. 3 Trzeciak W. H.

  4. 3 Wilczok T.

  5. 2 Bartnik E.

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1

Frequency of mutations related to hereditary haemochromatosis in northwestern Poland

100%
Raszeja-Wyszomirska J., Kurzawski G., Suchy J., Zawada I., Lubinski J., Milkiewicz P.
Journal of Applied Genetics
|
2008
|
vol. 49
|
issue 1
105-107
EN
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. In Europe, frequencies of these mutations are the highest in Northern European countries and gradually decrease southwards. We analysed the prevalence of HFE mutations in 1517 DNA samples, including 1000 samples from the general population (subjects registered at general practitioner practices) in northwestern Poland, and 517 samples of cord blood from the same region. We identified 2 (0.13%) homozygotes and 117 (7.8%) heterozygotes for the C282Y mutation. As regards the H63D mutation (1505 DNA samples analysed), 38 (2.5%) samples were homozygotes and 380 (25%) were heterozygotes. Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation.
2

Mutations of the genes coding collagen type I ? biochemical and clinical effects

100%
Wieczorek P., Zawierta J., Rzeuski R.
Postępy Higieny i Medycyny Doświadczalnej
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2000
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vol. 54
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issue 1
99-114
EN
Type I collagen is the most abundant protein of human body. In this paper the effects of mutations in COL1A1 and COL1A2 genes on biochemical properties of this protein and clinical manifestations are discribed.
3

A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia?

100%
Mostowska A., Biedziak B., Trzeciak W. H.
Journal of Applied Genetics
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2006
|
vol. 47
|
issue 2
159-164
EN
Even though selective tooth agenesis is the most common developmental anomaly of human dentition, its genetic background still remains poorly understood. To date, familial as well as sporadic forms of both hypodontia and oligodontia have been associated with mutations or polymorphisms of MSX1, PAX9, AXIN2 and TGF, whose protein products play a crucial role in odontogenesis. In the present report we described a novel mutation of MSX1, which might be responsible for the lack of 14 permanent teeth in our proband. However, this c.581C>T transition, localized in a highly conserved homeobox sequence of MSX1, was identified also in 2 healthy individuals from the proband's family. Our finding suggests that this transition might be the first described mutation of MSX1 that might be responsible for oligodontia and showing incomplete penetrance. It may also support the view that this common anomaly of human dentition might be an oligogenic trait caused by simultaneous mutations of different genes.
4

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

100%
Laniewski-Wollk M., Gos M., Koziarski A., Szpecht-Potocka A.
Journal of Applied Genetics
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2008
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vol. 49
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issue 3
297-300
EN
Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 ? bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.
5

Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome

80%
Ignacak M., Niedziela M., Trzeciak W. H.
Journal of Applied Genetics
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2002
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vol. 43
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issue 1
109-114
EN
The action of testosterone and 5a-dihydrotestosterone are essential to the development of the male phenotype. Patients with karyotype 46,XY, resistant to these hormones, exhibit a wide spectrum of phenotypes: from phenotypic female, through a range of incomplete masculinization, to under-virilized, infertile man. These disturbances are caused by mutations in the androgen receptor gene (AR). We studied a 46,XY fenotypic female with typical symptoms of Complete Androgen Insensitivity Syndrome (CAIS). Multiple temperature single-stranded conformation polymorphism (MSSCP) and sequence analysis of exon 6 of the AR gene in a patient revealed a C2718T transition causing R786X mutation in the loop between helices VII and VIII of the LBD of the androgen receptor. The R786X mutation has been described in a patient with CAIS only once and no such mutations have been described in Eastern Europe.
6

Collagens, the basic proteins of the human body

80%
Czarny-Ratajczak M., Latos-Bielenska L.-B. A., Latos-Bielenska A.
Journal of Applied Genetics
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2000
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vol. 41
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issue 4
317-330
EN
Collagens are structural elements of many tissues in the human body. The family of collagens can be divided into fibrillar and non-fibrillar collagens. The criterion of the classification is the structure of these proteins. Mutations in the genes encoding collagens cause a variety of human diseases that include osteogenesis imperfecta, some forms of osteoporosis, chondrodysplasias, some types of Ehlers-Danlos syndrome, arterial and intracranial aneurysms, epidermolysis bullosa and the renal disease known as Alport syndrome. The detection of mutations is important both scientifically and clinically. Defining the molecular defects underlying a disorder helps in the understanding of not only the properties of the mutated protein but also the function of the normal protein. Even though many mutations in the genes encoding collagens have been described, the pathogenic consequences of some of the mutations are not fully understood. The important rationale for mutation detection is the clinical use of molecular diagnostics in genetic counselling and differential diagnosis.
7

The first Rb-1 gene promoter germ-line de novo mutation in patient with retinoblastoma

80%
Zajaczek S., Jakubowska A., Kurzawski G., Krzystolik Z., Lubinski J.
Journal of Applied Genetics
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1999
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vol. 40
|
issue 3
241-247
EN
Rb-1 gene promoter mutations are very rare events, only three retinoblastoma families with such alterations were reported up to now. Herein, we describe the first case of the Rb-1 gene promoter germ, line de novo mutation in a proband with sporadic unilateral retinoblastoma. All of reported Rb-1 gene promoter mutations are associated with a reduced penetrance. Together with the literature data it can be roughly estimated that penetration of cases with alteration localised in promoter and similar as in presented case, is at the level of about 60-70%. It seems, that there are some promoter sites more prone for occurrence of mutations.
8

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

80%
Kowalska A., Hasegawa M., Miyamoto K., Akiguchi I., Ikemoto A., Takahashi K., Araki W., Tabira T.
Journal of Applied Genetics
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2002
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vol. 43
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issue 4
535-543
EN
Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T C transition at position +11 of the intron following exon 10 (T C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 3?E10 +11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T C 3?E10 +11 mutation, as the other 5? splice site mutations of tau exon 10, modifies alternative splicing of exon 10.
9

Why is mutation breeding still attractive for breeding of chrysanthemum?

80%
Miller N.
Biotechnologia
|
2005
|
issue 2
196-205
EN
Many cultivars of chrysanthemum as well as other ornamental crops on Polish market are of foreign origin. Such situation is not to the advantage of Polish producers because of high royalties. There is a necessity of providing new Polish cultivars of ornamental crops, including chrysanthemum. Traditional breeding methods such as cross-breeding are not expensive but take much time and cannot be always applied for ornamental crops, which are usually heterozygous, poliploids and are vegetatively propagated. On the other hand, there are modern techniques including genetic transformation, but they are often out of reach for Polish breeders due to very high costs. Mutation breeding is a relatively inexpensive and easy method of obtaining new cultivars. Twelve new cultivars of chrysanthemums have been obtained as a result of mutation breeding research, carried out in the Departament of Ornamental Crops and Vegetables at University of Technology and Agriculture in Bydgoszcz. Induced mutations most often led to altered inflorescensce colour and shape, growth habit and other traits. Both induced mutations and regeneration in vitro using adventitious buds technique apear to be useful tools in breeding of chrysanthemum.
10

Three novel mutations in exon 21 encoding b-cardiac myosin heavy chain

80%
Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T.
Journal of Applied Genetics
|
2003
|
vol. 44
|
issue 1
103-109
EN
Familial hypertrophic cardiomyopathy has a complex multigenic background. Previous work allowed to determine one of the gene loci responsible for this disease on chromosome 14 band q11-q12, and linked it to the a and b-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for b-myosin heavy chain. We described 4 patients from different families with an unequivocal diagnosis of hypetrophic cardiomyopathy based on the clinical picture. Direct sequencing of exon 21 revealed the presence of 5 novel mutations. Two of the mutations in codons 771 and 781 revealed in our study did not result in any changes in amino acid sequence. The next three were as follows: in codon 782 (AGC > GAC) transition responsible for Ser?Asp substitution; in codon 779 (GAG > TAG) mutation that results in replacement of Glu?Stop; in codon 774 (GAG > GTG) which is expressed as substitution of Glu?Val. These mutations are located close to mutations identified and described in the literature, so they are likely to cause similar sumptoms.
11

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

80%
Kabzinska D., Sinkiewicz-Darol E., Hausmanowa-Petrusewicz I., Kochanski A.
|
|
vol. 51
|
issue 2
203-209
EN
Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser112Arg mutation in the PMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser112Arg mutation in the PMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated with PMP22 gene mutations
12

Application of some molecular biology techniques in diagnosis of human genetic diseases

80%
Slomski R., Kwiatkowska J., Chlebowska H.
Biotechnologia
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1993
|
issue 4
125-131
EN
Following the initial reports of the cloning of a DNA fragment, modern molecular genetics found immediate practical application in molecular analysis and diagnosis of human diseases.Genomic DNA, RNA, nucleic acids from archival specimen or cloned DNA may be starting materials for gene analysis.In extrame cases complete analysis can be performed on the DNA from a single cell or a few microdissected chromosome fragments, or on RNA from only few cells. Many variations of the basic analytical procedures have nov been described and applied to a range of medical disciplines. These include, the polymerase chain reaction (PCR), which rapid detection of fast or slow growing microorganisms and viruses, such as mycobacteria and HIV, the detection of minimal residual diseases in leukaemia and in HLA typing. The analysis of archival and forensic material has applications in forensic pathology and evolutionary biology. PCR technique has also established a central role in the human genome project.
13

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

80%
Phadke S. R., Gupta N., Girisha K. M., Kabra M., Maeda M., Vidal E., Moser A., Steinberg S., Puri R. D., Verma I. C., Braverman N.
|
|
vol. 51
|
issue 1
107-110
EN
Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.
14

Mitochondrial DNA mutations in human neoplasia

80%
Czarnecka A. M., Golik P., Bartnik E.
Journal of Applied Genetics
|
2006
|
vol. 47
|
issue 1
67-78
EN
Many models of tumour formation have been put forth so far. In general they involve mutations in at least three elements within the cell: oncogenes, tumour suppressors and regulators of telomere replication. Recently numerous mutations in mitochondria have been found in many tumours, whereas they were absent in normal tissues from the same individual. The presence of mutations, of course, does not prove that they play a causative role in development of neoplastic lesions and progression; however, the key role played by mitochondria in both apoptosis and generation of DNA-damaging reactive oxygen species might indicate that the observed mutations contribute to tumour development. Recent experiments with nude mice have proven that mtDNA mutations are indeed responsible for tumour growth and exacerbated ROS production. This review describes mtDNA mutations in main types of human neoplasia.
15

Loss of heterozygosity at BRCA1/2 loci in hereditary and sporadic ovarian cancers

80%
Brozek I., Ochman K., Debniak J., Morzuch L., Ratajska M., Stepnowska M., Stukan M., Emerich J., Limon J.
Journal of Applied Genetics
|
2009
|
vol. 50
|
issue 4
379-384
EN
Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRCA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCA1 intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCA1 germline mutations.
16

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

80%
Sucharski P., Sanak M., Kostyk E., Pietrzyk J. J., Kruczek A.
Journal of Applied Genetics
|
1998
|
vol. 39
|
issue 4
367-373
EN
A BESS-T-Scan analysis of cDNA COL1A1 and COL1A2 obtained by RT-PCR derived from five patients with sporadic forms of ostegenesis imperfecta was performed. The study was done in four patients with type I and one patient with type III OI. The analysis revealed the presence of structural changes in two regions of cDNA COL1A1 in two patients. No quantitative changes referring to COL1A2 gene were noted in any patient. The above analysis was the first application of the BESS-T-Scan technique in a molecular diagnosis of OI. The applied method seems to be useful and fulfil the basic criteria of the screening method to detect and locate mutations.
17

The role of mutagenesis in the modification of the fatty acid profile of oilseed crops

80%
Velasco L., Perez-Vich B., Fernandez-Martinez J. M.
Journal of Applied Genetics
|
1999
|
vol. 40
|
issue 3
185-209
EN
Mutagenesis has played a major role in the development of novel variation for the fatty acid profile of oilseed crops. Although the first successful experiments were started in the 70s, most of the achievements in this field have been reported during the 80s and 90s. This paper summarizes the role of mutagenesis in the modification of the fatty acid profile of oilseed crops, the genetic basis of such modifications, and the consequences for plant breeding.
18

Mutations in the bovine ABCG2 and the ovine MSTN gene added to the few quantitative trait nucleotides identified in farm animals: a mini-review

80%
Braunschweig M. H.
|
|
vol. 51
|
issue 3
289-297
EN
The progress in molecular genetics in animal breeding is moderately effective as compared to traditional animal breeding using quantitative genetic approaches. There is an extensive disparity between the number of reported quantitative trait loci (QTLs) and their linked genetic variations in cattle, pig, and chicken. The identification of causative mutations affecting quantitative traits is still very challenging and hampered by the cloudy relationship between genotype and phenotype. There are relatively few reports in which a successful identification of a causative mutation for an animal production trait was demonstrated. The examples that have attracted considerable attention from the animal breeding community are briefly summarized and presented in a table. In this mini-review, the recent progress in mapping quantitative trait nucleotides (QTNs) are reviewed, including the ABCG2 gene mutation that underlies a QTL for fat and protein content and the ovine MSTN gene mutation that causes muscular hypertrophy in Texel sheep. It is concluded that the progress in molecular genetics might facilitate the elucidation of the genetic architecture of QTLs, so that also the high-hanging fruits can be harvested in order to contribute to efficient and sustainable animal production.
19

Human mitochondria in health, disease, ageing and cancer

80%
Bartnik E., Lorenc A., Mroczek K.
Journal of Applied Genetics
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2001
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vol. 42
|
issue 1
65-71
EN
In every human cell there are hundreds of mitochondria, which are required for oxidative phosphorylation as well as many other metabolic processes. Each mitochondrion contains approximately 5 mitochondrial DNA molecules. These circular DNAs of 16.5 kb in size contain only 39 genes . Mutations in mitochondrial DNA are responsible for many diseases. Alterations in these molecules may also play a role in ageing and in tumour formation.
20

Molecular findings in Brazilian patients with osteogenesis imperfecta

80%
Reis F. C., Alexandrino F., Steiner C. E., Norato D. Y. J., Cavalcanti D. P., Sartorato E. L.
Journal of Applied Genetics
|
2005
|
vol. 46
|
issue 1
105-108
EN
Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.
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