Temat: human chromosome - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: The quantitative PCR technique resolves ambiguities concerning a small rearrangement of human chromosome 6q12-13
Autorzy:: Nowacka, J
Helszer, Z.
Walter, Z.
Plucienniczak, A.
Kaluzewski, B.
Powiązania:: https://bibliotekanauki.pl/articles/2048327.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: duplication
chromosome
human chromosome
man
rearrangement
cytogenetic diagnosis
karyotype analysis
chromosome aberration
polymerase chain reaction
inversion
Źródło:: Journal of Applied Genetics; 2001, 42, 4; 541-545
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Unidirectional orientation of twelve expressed tagged sites within 4o kb of human chromosomal region 22q13.1
Autorzy:: Pusch, C
Wang, Z.
Roe, B.
Blin, N.
Powiązania:: https://bibliotekanauki.pl/articles/2048293.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: RNA
human chromosome
chromosome
hybridization
genetic change
linear map
polymerase chain reaction
DNA
cosmid
cDNA
transcriptional orientation
Opis:: The single copy sequence D22S16 from human chromosomal region 22q13.1 that carries a putative conserved gene, was used to probe a chromosome 22-specific cosmid library. Genomic sequencing of one positive, 40 kb long cosmid (C1155) revealed a hereto unmapped gene (a subunit of DNA-dependent RNA polymerase II, POLR2F), a SOX9-related sequence and 12 expressed sequence tags. Although not parts of one consecutive gene, all 12 ESTs and, in addition, the polymerase gene are oriented in the same transcriptional direction within the genomic sequence represented by cosmid C1155.
Źródło:: Journal of Applied Genetics; 1998, 39, 2; 199-204
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: A familial X-Y translocation: cytogenetic and molecular study
Autorzy:: Kusz, K
Wojda, A.
Wisniewska, M.
Latos-Bielenska, A.
Jaruzelska, J.
Powiązania:: https://bibliotekanauki.pl/articles/2041975.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: chromosome
human genetics
hirsutism
molecular analysis
X-Y translocation
Źródło:: Journal of Applied Genetics; 2001, 42, 2; 237-240
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

Tytuł:: Influence of cysteine on mechlorethamine - induced chromosomal aberrations in cultured human lymphocytes
Autorzy:: Blaszczyk, A
Powiązania:: https://bibliotekanauki.pl/articles/2048200.pdf
Data publikacji:: 1995
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: cysteine
lymphocyte
human lymphocyte
chromosome aberration
in vitro
mechlorethamine
mutagenicity test
Opis:: The aim of the present paper was to find out by in vitro chromosomal aberration test using human lymphocytes whether cysteine has anticlastogenic properties towards a well-known mutagen - mechlorethamine. The lymphocytes tested were obtained from three healthy donors. Two doses of cysteine (1.0 and 2.0 μg/ml) and three doses of mechlorethamine (0.1,0.2 and 0.3 μg m⁻¹) were tested. It was found that cysteine had anticlastogenic properties and that it reduced the number of metaphases with chromosomal aberrations induced by mechlorethamine.
Źródło:: Journal of Applied Genetics; 1995, 36, 4; 389-393
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 5.

Tytuł:: Analysis of chromosome aberrations, sister chromatid exchanges [SCE] and cell division kinetics in human lymphocytes exposed in vitro to new monophosphates of pyrimidine acyclonucleosides
Autorzy:: Ferenc, T
Rutkowski, M.
Bratkowska, W.
Hubner, H.
Draminski, M.
Powiązania:: https://bibliotekanauki.pl/articles/2044452.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: statistical analysis
chromatid gap
chromosome number
enzyme activity
chromosome aberration
in vitro
chromosome gap
pyrimidine
phosphorylase
acyclonucleoside monophosphate
human lymphocyte
sister chromatid exchange
cell division
Opis:: Five newly synthesised monophosphates of two pyrimidine acyclonucleoside series, namely 1-N-[(2’-hydroxy)ethoxymethyl] and l-N-[(l’,3’-dihydroxy)- 2’-propoxymethyl] derivatives of 5- and 5,6-alkylated uracils were tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). Metaphase plates were obtained via microculture of human lymphocytes from heparinized peripheral blood. The compounds were tested in doses: 10, 20, 40, 80 and 150 µg per mL of culture. The tested compounds induced mainly chromatid gaps, less frequently chromosome gaps. A low number of mitoses with chromatid and chromosome breaks, acentric fragments, dicentric chromosomes and exchange figures were also observed. The tested compounds in doses: 40, 80 and 150 µg per mL, doubled or tripled the percentage of cells with chromatid gaps and chromosome gaps as compared to the control. The percentage o cells with aberrations (excluding gaps) induced by the tested compounds in all doses did not exceed 2%. The tested compounds induced a higher number of SCE per cell but less than double frequency as compared to the control. SCE frequencies and replication index (RI) values varied depending on the examined compounds. For the highest dose of the tested compounds (150 µg per mL) a significant decrease in RI values was observed for l-N-[(2’-hydroxy)ethoxymethyl]-5,6-tetramethyleneuracil monophosphate and for l-N-[(2’-hydroxy)ethoxymethyl]-5,6-dimethyluracil monophosphate. So far, the results have indicated potential clastogenicity of all the tested compounds except acycloguanosine monophosphate.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 113-127
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 6.

Tytuł:: Effects of acetylsalicylic acid and a new pyrazine derivative PD-101 on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes
Autorzy:: Wozniak, A
Limon, J.
Petrusewicz, J.
Kaliszan, R.
Powiązania:: https://bibliotekanauki.pl/articles/2044238.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: pyrazine
cell cycle
human lymphocyte
cytogenetic analysis
sister chromatid exchange
kinetics
chromosome aberration
in vitro
acetylsalicylic acid
Opis:: Acetylsalicylic acid (ASA) and α-2-pyrazylidene-α-cyano N-butyl acetamide (PD-101), a new antiaggregatory pyrazine derivative were tested for their genotoxicity in human lymphocytes in vitro using the sister chromatid exchange (SCE) technique. Both compounds were found to be inactive in inducing SCE in concentration from 1 µM up to 1000 µM. The agents displayed inhibitory effect on cell kinetics.
Źródło:: Journal of Applied Genetics; 1998, 39, 3; 281-287
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 7.

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

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Skocz do pozycji: 8.

Tytuł:: Association of chosen microsatellite markers on chromosomes 10, 11p and 14q with IDDM susceptibility in the population of midwestern Poland
Autorzy:: Jungerman, M
Fichna, P
Powiązania:: https://bibliotekanauki.pl/articles/2047273.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: microsatellite marker
human disease
chromosome
statistical analysis
Polska
susceptibility
insulin-dependent diabetes mellitus
health control
polymerase chain reaction
Wielkopolska region
diabetic child
population
Opis:: In search for new markers of insulin-dependent diabetes (IDDM) susceptibility we studied the CATT tetranucleotide repeat in intron 1 of tyrosine hydroxylase (TH) gene on chromosome lip, the CA repeat at T-cell receptor a chain (TCRA) locus on chromosome 14q and two CA repeats at D10S211 and D10S213 loci in the chromosome 10 region containing glutamic acid decarboxylase (GAD2) gene. Alleles at these microsatellite loci were identified in a population of diabetic children and unrelated healthy controls originating from Wielkopolska, a midwestern region of Poland. We found significant association of certain alleles at TH, TCRA and D10S211 loci with diabetes in the population under study. On the contrary, none of the alleles at D10S213 locus was associated with the disease. Our findings indicate that typing of microsatellite markers may represent useful additional tool for identifying individuals at high risk of developing IDDM. Regarding loci on chromosome 10 our data and data published by other authors may suggest the extistence of two separate regions of association with IDDM susceptibility on this chromosome.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 217-228
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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