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Wyszukujesz frazę "Mutation" wg kryterium: Temat


Tytuł:
Fertility improvement in pea [Pisum sativum L.] autotetraploids - mutation breeding
Autorzy:
Kumar, H
Mercykuty, V.C.
Srivastava, C.P.
Powiązania:
https://bibliotekanauki.pl/articles/2048128.pdf
Data publikacji:
1995
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
mutation breeding
micromutation
fertility improvement
autotetraploid
disjunction index
pea
Pisum sativum
seed
Opis:
C₂ seeds of autotetraploids (colchicine-induced) of two diverse genotypes, T 163 and 5064-S, of pea (Pisum sativum L.) and their corresponding diploids were irradiated with 10 kR gamma-ray. Autotetraploids showed a high seed-sterility as compared to diploids. Seed fertility increased in M₂ as compared to M₁. Both quadrivalent and bivalent frequencies decreased in the M₁ generation of autotetraploids in relation to their respective controls. However, a positive shift in the mean bivalent formation was noted at the cost of other configurations in C₃-M₂ with respect to C₂-M₁ and varied with the genotype. In the M₂ generation of autotetraploids, the variability was relatively higher for the number of pods per plant and seed yield per plant. Although the mean values for pods per plant, number of seeds per pod and seed yield per plant remained more or less parallel in autotetraploids in M₁ and M₂ generations, there was an increase in the upper range limit probably due to micromutation for these characters in M₂.
Źródło:
Journal of Applied Genetics; 1995, 36, 1; 43-48
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:
Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:
https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:
1996
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:
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 in those without any mental impairment.
Źródło:
Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Cytological and genetic evaluation of anther culture-derived doubled haploids in barley
Autorzy:
Szarejko, I
Falk, D E
Janusz, A
Nabialkowska, D
Powiązania:
https://bibliotekanauki.pl/articles/2046612.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
cytological analysis
doubled haploid
morphological variation
genotype
barley
genetic evaluation
gametoclonal variation
chlorophyll mutation test
Hordeum vulgare
anther culture
Opis:
Gametoclonal variation among anther culture-derived plants of three barley genotypes was estimated on the basis of cytological analysis (DH1, DH2 generation), observation of morphological variants (DH2, DH3) and chlorophyll mutation test (DH2, DH3). Individual head rows were grown in the field to detect possible chimeric structure of regenerants and to assess the number of variants and mutations in each line. Spontaneously doubled plants were the most frequent class (70%) among regenerants and almost 90% of them were completely fertile. There was a difference in proportion of haploids produced by different genotypes, but the highest frequency observed did not exceed 21%. The remaining regenerants were tetraploid, and contained chromosomal mutations or chimeras. In total, there were about 15% of polyploids and plants carrying chromosomal aberrations (translocations, inversions) among DH1 individuals. The changes in chromosome number and structure were the main source of observed variation. The level of gene mutation induced in vitro was relatively low. No more than 1% of microspore-derived plants expressed visible morphological changes in DH2 progeny. Only two morphological variants derived from the Bruce cultivar proved to be homozygous mutants (dwarf type) stable up the to third generation. The frequency of DH plants carrying chlorophyll mutation was 5.8%, but most of them (82%) were chimeric and had only a small mutation sector. The level of gametoclonal variation depended on the donor plant genotype. The highest proportion of variants and mutations was observed among DH plants derived from the Bruce cultivar, while the lowest was recorded among plants regenerated from anther culture of the doubled haploid line H930-36. Mechanisms leading to the observed variation and implications resulting from the presented experiments concerning implementation of anther culture in barley breeding were discussed. It was concluded that this method resulted in a high frequency of spontaneous doubling, a low frequency of genetic changes, and being less time and effort-consuming than the ’Bulbosum’ technique, can be applied to most barley breeding programs.
Źródło:
Journal of Applied Genetics; 1997, 38, 4; 437-452
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Familial polyposis coli - inducing mutations in APC gene in Poland
Autorzy:
Pawlak, A L
Plawski, A
Smoczkiewicz, P
Kwiatkowska, J
Meissner, W
Krokowicz, P
West, S P
Powiązania:
https://bibliotekanauki.pl/articles/2046600.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
familial adenomatous polyposis
protein truncation test
Polish population
mutation
polymerase chain reaction
heteroduplex analysis
Opis:
Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.
Źródło:
Journal of Applied Genetics; 1997, 38, 1; 77-85
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Haplotypes of microsatellite markers of the CFTR gene in Polish and German CF chromosomes suggest an ancient origin of the most frequent cystic fibrosis mutations
Autorzy:
Witt, M
Varon-Mateeva, R
Reis, A
Rutkiewicz, E
Powiązania:
https://bibliotekanauki.pl/articles/2046681.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
microsatellite marker
chromosome
haplotype
German population
Polish population
autoradiography
Paleolithic origin
mutation
cystic fibrosis
Neolithic origin
Opis:
In this study we have analysed haplotypes of microsatellite markers of the CFTR gene: IVS8CA, IVS17BTA, IVS17BCA in 17 CF chromosomes of Polish origin and in 19 chromosomes of German origin bearing CF mutations other than ΔF508. In the Polish population, the G542X mutation is connected with haplotypes 16/17-28/32/38-13; in the German population, a more diverse haplotype association has been detected (23-33-13 and 16-32-13). The 1717-1G->A mutation is associated with the 15/16-7-13 haplotype in the Polish population, like the G551D mutation in Germany. The only analysed case of N1303K of Polish origin is connected with the 23-30-13 haplotype, like in the German population. One N1303K chromosome of an entirely different haplotype (16-29-17) turned out to be of Greek origin. These data suggest an ancient, Palaeolithic or Neolithic origin of these mutations in the territory of current Northern Europe.
Źródło:
Journal of Applied Genetics; 1997, 38, 3; 329-334
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Is the recently discovered EDA gene associated with anhidrotic ectodermal dysplasia?
Autorzy:
Kobielak, K
Kobielak, A
Trzeciak, W H
Powiązania:
https://bibliotekanauki.pl/articles/2046683.pdf
Data publikacji:
1997
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
ectodermal-mesodermal interaction
X chromosome
submicroscopic deletion
hyperthermia
Christ-Siemens-Touraine syndrome
hybridization
ectodermal dysplasia
mutation
somatic cell
linkage analysis
embryonic life
transmembrane receptor
Opis:
The evidence from literature strongly suggests that Christ-Siemens-Touraine (CST) syndrome is associated with mutations of the newly discovered EDA gene. The gene is situated on the long arm of the X chromosome (Xq12.2-q13.1) and contains two exons separated by a 200 kbp intron. The 5’-untranslated region and most of the coding sequence are localized in exon 1, while three C-terminal amino acids are encoded by exon 2. The coding sequence was interrupted by translocations in three affected females: t(X;l), t(X;12), t(X;9), and submicroscopic deletions of the EDA gene were found in five males with CST syndrome, and point mutations were discovered in exon 1 in nine other patients. Northern blot analysis and in situ hybridization studies revealed that the EDA gene was expressed in the foetus, and postnatally in a specific type of skin cell and that the expression was limited to cells of ectodermal origin. A predicted protein product of the EDA gene contains 135 to 140 amino acids, organized in three distinct domains and may belong to class II transmembrane receptors.
Źródło:
Journal of Applied Genetics; 1997, 38, 3; 343-357
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Application of in vitro culture techniques to barley [Hordeum vulgare L.] improvement
Autorzy:
Ullrich, S E
Kleinhofs, A.
Hou, L.
Jones, B.L.
Powiązania:
https://bibliotekanauki.pl/articles/2044453.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
tissue culture
doubled haploid
mutagenesis
breeding programme
anther culture
in vitro
callus culture
somaclonal variation
barley
mutation
Hordeum vulgare
embryo
molecular biology
Opis:
Several aspects of in vitro culture have potential for cereal improvement. This paper focuses on evaluation of somaclonal variation (SV) from immature embryo callus culture, and doubled haploid (DH) production via anther culture in barley. Genetically stable SV was observed for several seedling morphological traits such as albino, yellow, light green and lethal. SV occurred at approximately half the frequency of azide-induced mutagenesis. The potential for widespread application of anther culture-mediated DH production in barley breeding and genetic studies was increased through culture procedure improvements and understanding the inheritance of anther culture response. Methodology improvements included substitution of inexpensive gelrite for expensive ficoll or agarose, ability to grow anther donor plants under field as well as growth chamber conditions and flexibility in cold pretreatment/storage of anther donor spikes for 4-6 weeks prior to anther plating. From diallel analysis, inheritance of anther culture response was complex with additive and dominance effects for embryoid formation, total plant regeneration and green plant regeneration and reciprocal effects (maternal) for green plant regeneration. High x low responder crosses generated F₁’s that were intermediate in response and low x low crosses sometimes produced F₁ heterosis for green plant regeneration. Therefore, some recalcitrant types appear to be usable in anther culture DH production systems within a breeding program.
Źródło:
Journal of Applied Genetics; 1998, 39, 1; 49-58
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes
Autorzy:
Popowska, E
Sulek, A.
Kubalska, J.
Pronicka, E.
Jezewska, M.
Trembacz, H.
Goryluk-Kozakiewicz, B.
Krajewska-Walasek, M.
Powiązania:
https://bibliotekanauki.pl/articles/2044455.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
deletion
Lesch Nyhan syndrome
Kelley-Seegmiller syndrome
hypoxanthine-guanine phosphoribosyltransferase deficiency
enzyme activity
Polish patient
point mutation
Opis:
Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.
Źródło:
Journal of Applied Genetics; 1998, 39, 1; 103-111
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Estimation of induced mutation rates of four esterase genes in barley [Hordeum vulgare L.]
Autorzy:
Kucharska, M
Maluszynski, M.
Powiązania:
https://bibliotekanauki.pl/articles/2044884.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
mutation frequency
isoenzyme
barley
hybrid
mutagen
enzyme system
plant morphology
mutant
Hordeum vulgare
esterase
estimation
seed
Opis:
Induced mutation rate of barley esterase loci has been estimated. Results suggested that about 3% of investigated M₁ spikes had seeds which gave rise to M₂ seedlings mutated in one of four esterase loci. M₁ plants were obtained after chemical treatment of seeds from two spring barley cultivars Aramir and Bielik. The majority of mutants were reconfirmed in the М₃ generation.
Źródło:
Journal of Applied Genetics; 1998, 39, 2; 141-145
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene
Autorzy:
Gronek, P
Slomski, R.
Lisiecka, D.
Plawski, A.
Nuc, K.
Banasiewicz, T.
Powiązania:
https://bibliotekanauki.pl/articles/2044249.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
homology
Equus grevyi
Sus scrofa
ryanodine receptor
chromosome
polymorphism
gene
porcine gene
man
mutation
polymerase chain reaction
DNA
malignant hyperthermia
skeletal muscle
Opis:
The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
Źródło:
Journal of Applied Genetics; 1998, 39, 3; 275-279
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Intermedium mutants in barley [Hordeum vulgare L.] - diversity, interactions and plant breeding value
Autorzy:
Lundqvist, U
Lundqvist, A.
Powiązania:
https://bibliotekanauki.pl/articles/2044458.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
mutant combination
gene interaction
diversity
barley
mutation
Hordeum vulgare
intermedium gene
plant breeding
Opis:
Mutation research has given an insight into the rather complex genetics of kernel rows in barley. At least 12 gene loci can act to promote the spike development, fertility, and kernel development. Mutants with such effects as sixrow and intermedium phenotypes show clear morphological distinctions among different loci, but also among different allelic mutants. These genes, without exception, are capable of unexpected synergistic reinforcing or disturbing intraction, the extremes being typically six-rowed or deformed spikes, respectively. The investigations have centered on 69 intermedium mutants, representing 9 loci, in double mutant combinations, in double combinations with the six-row gene hex-v, in triple combinations with hex-v, and in triple and quadruple mutant combinations. The effects of the interaction may differ among the three characters of lateral floret development, among intermedium loci, and among alleles of the particular locus. Particular types of gene interaction are indicated, particular loci being more competent than others, and the particular alleles being more competent in relation to the constellation of loci. Accumulation of intermedium genes in more complex gene systems leads to progressive promotion of lateral floret development, but there are indications that such systems may be more sensitive to environmental stress, leading to irregular or even deformed spike formation. Probably, representatives of the hex-v locus should form the fundamental constituent in the synthesis of gene systems with the most efficient promotion of lateral floret development in the breeding of six-row barley.
Źródło:
Journal of Applied Genetics; 1998, 39, 1; 85-96
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Linkages in Pisum L. VII. Locus for the sterile gene calf [cabbage leaf]
Autorzy:
Swiecicki, W K
Wolko, B.
Kruszka, K.
Powiązania:
https://bibliotekanauki.pl/articles/2048286.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
Pisum
monohybrid segregation
gene expression
linkage
chromosome map
mutation
leaf
cabbage leaf
genetic analysis
dihybrid segregation
F2 population
Opis:
Genetical analyses were conducted to find linkages and the locus of the gene calf on the Pisum chromosome map. The recessive, pleiotropic gene calf (enlarged and undulated leaflets, stipules, flowers and pods, plant sterile), artificially induced (the initial line-Large Podded G-20, the mutagene-DES and NMU) was described by Sharma in 1975. An identical mutant gene at the same locus was isolated in our research (the initial line - cv. Pegro, the mutagene - fast neutrons). Two lines were included in the Pisum gene bank - the type line for the gene calf - Wt 15873 and the representative line - Wt 16024. In linkage studies the representative line was crossed with tester lines bearing gene markers. Analyses of dihybrid segregation in F₂ generations revealed linkages of the gene calf with chromosome 2 markers. Two isozymic markers helped to reveal the calf locus on chromosome 2 with the following gene order: Orp - Calf - K - Pgm-p - Fum. This is in agreement with the current Pisum linkage map.
Źródło:
Journal of Applied Genetics; 1998, 39, 2; 163-169
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular studies in osteogenesis imperfecta [OI] I. Clinical analysis of patients with osteogenesis imperfecta
Autorzy:
Pietrzyk, J J
Kruczek, A.
Kostyk, E.
Sucharski, P.
Piatkowska, E.
Powiązania:
https://bibliotekanauki.pl/articles/2044210.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
disease
collagen protein
clinical classification
collagen type I
collagen synthesis
mutation
diagnostic method
osteogenesis imperfecta
Opis:
The goal of this study is to develop optimal diagnostic methods for osteogenesis imperfecta (OI), which will allow to distinguish familial from spontaneous cases and can be used in prenatal diagnostics as well. The paper summarizes the clinical part of the study, in which 69 families were analyzed. The families with OI were registered, their pedigrees were studied, a clinical classification of the disease was carried out and the dermatoglyphics of the affected patients were analyzed. Based on the above results a diagnostic algorithm was elaborated.
Źródło:
Journal of Applied Genetics; 1998, 39, 4; 331-348
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular studies in osteogenesis imperfecta [OI] III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique
Autorzy:
Sucharski, P
Sanak, M.
Kostyk, E.
Pietrzyk, J.J.
Kruczek, A.
Powiązania:
https://bibliotekanauki.pl/articles/2044221.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
COL1A1 gene
electrophoresis
COL1A2 gene
collagen production
man
RNA isolation
mutation
BESS-T-Scan technique
molecular diagnosis
DNA
osteogenesis imperfecta
cDNA synthesis
fibroblast culture
Opis:
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.
Źródło:
Journal of Applied Genetics; 1998, 39, 4; 367-373
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Plasmids R577 and R785 decrease the resistance of Escherichia coli K12 strain W1485 to bactericidal action of normal serum
Autorzy:
Jankowski, S
Cisowska, A.
Powiązania:
https://bibliotekanauki.pl/articles/2044258.pdf
Data publikacji:
1998
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
serum
incubation
drug
bactericidal activity
plasmid
mutation
bacterial cell
Escherichia coli
Opis:
The role of plasmids of drug resistance R577 and R785 in the development of susceptibility of Escherichia coli K12 strain W1485 to the bactericidal action of serum was studied. Plasmids R577 and R785 were transfered to cells of strain W1485 by means of conjugation. The susceptibility of cells containing the plasmid to serum was compared to that of cells lacking the plasmid. It was found that plasmids R577 and R758 sensitize bacteria to the action of serum.
Źródło:
Journal of Applied Genetics; 1998, 39, 3; 211-216
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł

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