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1

in

100%

Wiland E. M.

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vol. 47

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issue 3

161-168

EN

In this review types of in from healthy men, men with and after exposure to are presented.

2

Ultrasound diagnostic schema for the determination of increased risk for chromosomal fetal aneuploidies in the first half of pregnancy

100%

Sieroszewski P., Perenc M., Bas-Budecka E., Suzin J.

Journal of Applied Genetics

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2006

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vol. 47

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issue 2

177-185

EN

The aim of the study was to develop an early ultrasound diagnostic schema for the determination of increased risk for fetal chromosomal aneuploidies. The study was conducted on a population of 1318 pregnant women divided into 2 groups: 1255 women with the normal course of pregnancy and 63 women with diagnosed fetal abnormalities. There were 34 cases of chromosomal abnormalities (trisomy 21, 18, 13; triploidy; unbalanced inversion 9; deletion 16) and 29 cases of structural malformations. The estimation of the range of normal values was performed for the nuchal translucency (NT) measurement between 11 and 13 weeks and the nasal bone length (NB) measurement between 12 and 20 week. The results obtained in the collective set of normal pregnancies constituted the basis for the calculation of the range of normal values. The measurements of NB and NT showed a linear value increase with the pregnancy course. The following test characteristics (correlation to CRL) were recorded: NB ? sensitivity 60%, specificity 98%, positive predictive value (PPV+) 43%, negative predictive value (NPV-) 98.9%. For the assumption that the test outcome means the presence or absence of the nasal bone in the ultrasound scan the sensitivity was 40%, but specificity 100%; NT ? sensitivity 63.6%, specificity 98.2%, PPV+ 38.9%, NPV ? 98.2%; NT + NB ? presents similar characteristic to the NB or NT alone ? sensitivity 55.6%, specificity 98.6%, PPV+ 50%, NPV ? 98.9%. The following test characteristics for chromosomal aberration markers (correlation to BPD) were observed: NB ? sensitivity 68.4%, specificity 97.4%, PPV+ 56.5%, NPV ? 98.4%; NT ? sensitivity 73.9%, specificity 97.9%, PPV+ 54.8%, NPV- 99.2%; NT + NB - sensitivity 94.7%, specificity 98.9%, PPV+ 90%, NPV ? 99.7%, respectively. The ?genetic sonogram' protocol for the structural defect detection was analysed: sensitivity was 80%, specificity 100%, PPV+ 100%, NPV ? 99.7%. It is concluded that the new biometric parameter ? nasal bone length (NB) and the corrected one ? nuchal translucency thickness (NT) are useful markers for fetal abnormalities, especially for chromosomal aberrations. High predictive values of the diagnostic schema for the detection of aneuploidies and structural defects indicate that its application in correlation with the biparietal diameter (BPD) is highly recommended. The proposed schema is an effective algorithm for prenatal diagnostics characterised by high prognostic values. The possible introduction of the schema could result in a decrease of the invasive procedure rates, which could minimise the rate of miscarriages as a complication of amniocenteses.

3

Clastogenic and mitodepressive effects of the insecticide dichlorvos on root meristems of Vicia faba

100%

Kontek R., Osiecka R., Kontek B.

Journal of Applied Genetics

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2007

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vol. 48

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issue 4

359-361

EN

Plant bioassays are an important and integral part of the test battery used in detecting genotoxic/carcinogenic contamination in the environment. Highly sensitive biomonitoring of plant models have been developed, which enables the detection of hazards arising from pesticides, insecticides, industrial contamination, heavy metals and radiation. Root tips of Vicia faba ssp. minor were treated with 1?60 mM of the organophosphorus insecticide dichlorvos (DDVP) for 2 h, followed by a 20-h recovery period. Maleic acid hydrazide (MH) was used as a positive control for the mitotic index, micronucleus and chromosomal aberration assays performed on the Vicia model system. All treatments with DDVP significantly decreased the mitotic activity and increased the frequency of chromosomal aberrations at the metaphase. The frequency of micronuclei was significantly increased at DDVP concentrations starting from 10 mM. The results demonstrate clastogenic and mitodepressive effects of DDVP on Vicia faba cells.

4

Manifestations of ageing at the cytogenetic level

100%

Wojda A., Witt M.

Journal of Applied Genetics

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2003

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vol. 44

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issue 3

383-399

EN

The effects of ageing in humans appear to be a combination of influence of genetically programmed phenomena and exogenous environmental factors, and take place at the cellular level (senescence), rather than at the level of the organism. There are many processes, which occur in somatic cells as a consequence of DNA replication (accumulation of DNA errors or mutations that outstrip repair processes, telomere shortening, deregulation of apoptosis, etc.) and which drive replicative senescence in human cells. DNA errors are considered to be critical primary lesions in the formation of chromosomal aberrations. It can be concluded that the chromosome aberrations are biomarkers of ageing in human cells. Studies of human metaphases, interphase nuclei and micronuclei showed the increase in loss of chromosomes and the increase in frequency of stable chromosome aberrations as a function of age.

5

The 102-year old woman with translocation (7;12) and infertility in anamnesis

100%

Wojda A., Wolnik-Brzozowska D., Lubka M., Mossakowska M., Witt M.

Journal of Applied Genetics

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2003

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vol. 44

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issue 3

425-427

EN

In this study we present a 102-year old woman carrying a (7;12)(q11.3;q14) translocation. A woman displays a normal phenotype and infertility in anamnesis. This is the first report linking t(7;12) and infertility.

6

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations

88%

Sikorska A., Traczyk T. Z., Traczyk Z., Konopka K. L., Konopka L., Fiszer-Maliszewska F.-M. L., Fiszer-Maliszewska L., Wojciechowska W. B., Wojciechowska B., Pienkowska-Grela P.-G. B., Pienkowska-Grela B., Rygier R. J., Rygier J., Woroniecka W. R., Woroniecka R., Witkowska W. A., Witkowska A., Rusin R. M., Rusin M.

Journal of Applied Genetics

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2001

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vol. 42

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issue 3

379-384

EN

Li-Fraumeni syndrome is a rare autosomal, dominant trait of diverse types of cancers in children and young adults, with a predominance of soft tissue sarcomas, osteosarcomas, brain tumours, adrenocortical and breast carcinomas, as well as leukaemias. We present a family with an unusual cancer history fulfilling the criteria of Li-Fraumeni syndrome. Mutational analysis of the p53 gene in constitutional DNA of several affected members of the family did not show any germline p53 defect. Cytogenetic studies did not reveal any structural aberrations.

7

Influence of cysteine on mechlorethamine-induced chromosomal aberrations in cultured human lymphocytes

75%

Blaszczyk A.

Journal of Applied Genetics

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1995

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vol. 36

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issue 4

389-393

EN

The aim of the present paper was to find out by in vitro chromosomal aberration test using human lumphocytes whether cysteine has anticlastogenic properties towards a well-known mutagen - mechlorethamine.The lymphocytes tested were obtained rom three healthy donors.Two doses of cysteine and three doses of mechlorethamine were tested.It was found that cysteine had anticlastogenic properites and that it reduced the number of mrthaphase with chromosomal aberrations induced by mechlorethamine.

8

Cytogenetic perspective of ageing and longevity in men and women

63%

Zietkiewicz E., Wojda A., Witt M.

Journal of Applied Genetics

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2009

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vol. 50

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issue 3

261-273

EN

Analysis of relationships between the ageing cell phenotype and the age of cell donors is one of the ways towards understanding the link between cellular and organismal ageing. Cytogenetically, ageing is associated with a number of gross cellular changes, including altered size and morphology, genomic instability, and changes in expression and proliferation. Genomic instability can be easily assessed by analyzing the level of cytogenetic aberrations. In this review, we focus on the differences in the level and profile of cytogenetic aberrations observed in donors of different age and gender. Centenarians are a small fraction of the population at the extreme of human longevity. Their inclusion in such studies may shed light on one of the basic questions: whether genome stability is better maintained in successfully aged individuals compared to the rest of the population. At the same time, comparing the profile of age-related amount of chromosomal aberrations in men and women may help explaining the commonly observed gender differences in longevity.

Refine search results

in

Ultrasound diagnostic schema for the determination of increased risk for chromosomal fetal aneuploidies in the first half of pregnancy

Clastogenic and mitodepressive effects of the insecticide dichlorvos on root meristems of Vicia faba

Manifestations of ageing at the cytogenetic level

The 102-year old woman with translocation (7;12) and infertility in anamnesis

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations

Influence of cysteine on mechlorethamine-induced chromosomal aberrations in cultured human lymphocytes

Cytogenetic perspective of ageing and longevity in men and women