scholarly journals Peculiarities of karyotype of the Ukrainian aboriginal Hutsul breed of horse

2021 ◽  
Vol 59 (2) ◽  
pp. 215-219
Author(s):  
L. F. Starodub
Keyword(s):  
Gene Pool ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Micronucleus Test ◽  
Chromosomal Polymorphism ◽  
Radionuclide Contamination ◽  
Karyotypic Variability ◽  
Chromosomal Breaks ◽  
Nature Park ◽  
The Stability

Saving biodiversity and assessment of the genetic diversity of local breeds of domestic animals as priority subjects of protection in agrobiocenoses is one of the global challenges facing humanity in the 21st century. Hutsul horse is one of the oldest horse breeds in Ukraine, which according to the gene pool subject of horses in Ukraine belongs to the group “Local (mountain and ponies)” of the I category, which is already on the verge of extinction, and according to the FAO classification it is considered to be a subject of the gene pool threatened with extinction. Since the breeding chromosomal polymorphism of horses is insufficiently studied, it is timely to carry out a cytogenetic analysis of the characteristics of spontaneous mutagenesis in Hutsul horses. Karyotypic variability of Hutsul breed horses was determined using the methods of cytogenetic analysis and micronucleus test. The paper presents the results of cytogenetic analysis and micronucleus test of karyotypic variability of Hutsul breed horses. Asynchronous divergence of centromere regions of chromosomes occurs as a result of premature replication of centromere regions of heterochromatin associated with centromere activity. In the studied Hutsul horses, the magnitude of this variability corresponds to the spontaneous level for horses as a whole (2.2-9.1 %). No structural chromosomal abnormalities (chromosomal breaks) were revealed in Hutsul breed horses at Krai Neba LLC, and in the animals of the Hutsulshchina National Nature Park, the percentage of metaphase plates with chromosomal breaks was low (1.1 %), which indicates the stability of the karyotype of the studied animals. The results of the micronucleus test showed that the proportion of lymphocytes with micronuclei in the animals at the both farms was practically the same - 4.0-4.2. It can be concluded based on the data obtained that the animals under study were in ecologically clean conditions relative to the level of radionuclide contamination and were characterized by karyotype stability and reduced sensitivity to mutagenic factors of various nature.

scholarly journals KARYOTYPAL VARIABILITY OF CARPATHIAN BROWN COWS

2021 ◽  
Vol 61 ◽  
pp. 226-231
Author(s):  
L. F. Starodub ◽  
N. L. Reznikova ◽  
J. S. Vysochansky
Keyword(s):  
Cytogenetic Analysis ◽  
Bos Taurus ◽  
Micronucleus Test ◽  
Domestic Animals ◽  
The Body ◽  
Significant Difference ◽  
Karyotypic Variability ◽  
Structural Chromosome ◽  
Somatic Mutagenesis ◽  
Genomic Disorders

Brown Carpathian breed of cattle bred in Transcarpathia at the end of the XIX century. and belongs to the breeds of dairy and meat productivity. Animals of the modern breed are direct descendants of the ancient Brown Carpathian cattle, common at one time throughout Central Europe. The main advantage of the Brown Carpathian breed is that it can be effectively grown on natural pastures – both in the lowlands and in the mountains. The genetics of these animals are resistant to acute infectious diseases, they are well adapted to local conditions, sensitive to improved housing and feeding conditions, and cows produce special milk, which is used in the manufacture of high quality hard cheeses and baby food. Animals of the Brown Carpathian breed belong to the local small domestic breeds and are in a state of significant risk. The uterine population is bred only in households. The aim of our work was to study the karyotype variability of Brown Carpathian cows, which is quite relevant today. Cytogenetic analysis, which was aimed at establishing the karyotypic variability of Brown Carpathian cows, was performed in the village. Nyzhni Vorota, Volovets district, Zakarpattia region, in households. Purebred cows of Brown Carpathian breed – (16 heads) and local animals – (11 heads) were studied. According to the results of cytogenetic analysis, genomic disorders, aneuploidy, were found in purebred cows of Brown Carpathian breed, which was 1.6% and was expressed mainly by hypoploid cells 2n = 56–58. For domestic animals, the frequency of metaphase plates with aneuploidy was 3.3%, which corresponds to a spontaneous level of cytogenetic variability. Structural chromosome abnormalities, chromosomal breaks, in purebred cows were equal to 0.76%, which does not exceed the spontaneous level of chromosomal variability. In local animals, this variability did not manifest itsel. The indicators of the micronucleus test (the proportion of lymphocytes with a micronucleus of 1.7–2.0‰, dinuclear lymphocytes 1.5–2.7‰, and the mitotic index of 4.8–5.5‰, respectively) in domestic animals are higher compared to purebred animals, however, do not exceed those of the species Bos taurus. According to the results of the cytogenetic analysis, it was established that purebred cows of Brown Carpathian breed and their crossbreeds were characterized by quantitative and structural chromosome disorders. Genomic disorders, aneuploidy, in local animals are 2 times higher (3.3%) compared to purebred cows of Brown Carpathian breed with a statistically significant difference in mean values (P > 0.99). Low level or absence of structural disorders of chromosomes in purebred animals and their crossbreeds indicates a low degree of somatic mutagenesis. The indicators of the micronucleus test, as an indicator of the effect of the total mutagenic load on the body of the studied cows, in domestic animals are higher compared to purebred animals, however, do not exceed those characteristic of the species Bos taurus. It was established that the level of somatic mutagenesis is lower and the karyotype is more stable in purebred animals of the Brown Carpathian breed in comparison with the local ones.

Classical and Molecular Cytogenetic Abnormalities in 124 Pediatric Patients with Acute Lymphocyte Leukemia.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4419-4419
Author(s):  
Yihuan Chai ◽  
Hui Lv ◽  
Jun Lu ◽  
Peifang Xiao ◽  
Jianqing Li
Keyword(s):  
Bone Marrow ◽  
Multiplex Pcr ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Molecular Diagnostic ◽  
Pcr Analysis ◽  
Rt Pcr ◽  
Childhood All ◽  
Cytogenetic Abnormalities ◽  
Conventional Cytogenetic Analysis

Abstract In childhood acute lymphocyte leukemia (ALL), cytogenetics plays an important role in diagnosis, allocation of treatment and prognosis. On base of the conventional cytogenetic analysis, molecular methods have inproved our ability to accurately and rapidly risk-stratify patient with childhood ALL in the last few years. Our aim was to assess the demography of cytogenetic abnormalities in childhood ALL. The study sample consisted of 124 newly diagnosed ALL patients younger than 16 years, who were diagnosed at the Department of Pediatric Hematology/Oncology, Soochow University Children’s Hospital. The diagnosis and FAB subtypes of ALL was determined by Wright-Giemsa-stained bone marrow smears and cytochemicalstaining. Immunophenotyping of the bone marrow samples was performed by flow cytometry. Multiplex reverse transcription-polymerase chain reaction (RT-PCR) analysis was performed to detect the 29 most common leukemia translocations for routine molecular diagnostic hematopathology practice, and complement the information gained from conventional cytogenetic analysis. Cytogenetic analysis was successful in 112 of 124 children with ALL. Sixty-eight (60%)of them had clonal chromosomal abnormalities. Numerical imbalances consisted of hyperdipoild(>47 chromosomes, 36 cases), hypodipoild(<46 chromosomes, 14 cases), pseudodiploidy(18 cases). Chromosomal translocations were observed in 13 patients by conventional cytogenetic analysis. Three cases were found positive for t (4;11), 3 cases for t (9;22), 1 case for t (1;19) and 6 cases for other rare translocations. RT-PCR analysis detected 116 of the 124 ALL patients. Thirteen cases of TEL-AML1, 10 cases of rearrangement in the MLL gene, 4 cases of E2A-PBX1, 4 cases of E2A-HLF, 3 cases of BCR-ABL, 2 cases of TLS-ERG, 32 cases of HOX11, were detected by RT-PCR in B-lineage leukemias. SIL-TAL1 had been found in 4 of 7 of T-lineage leukemias. Sixty-eight cases of ALL show chromosomal aberrations. Multiplex PCR positivity was detected in 59(50%)of the 116 ALL patients studied. Multiplex PCR combined with chromosome analysis uncovered Chromosomal abnormalities in 95 of 124(77%) of ALL patients and supplemented each other in detecting Chromosomal abnormalities. It provides reliable evidence for the diagnosis, classification and prognosis.

Spectral Karyotyping (SKY) Reveals a New Subset of MDS Patients with Clonal Chromosomal Abnormalities Not Detected by G-Banding Analysis

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 1718-1718
Author(s):  
Fabio Morato Oliveira ◽  
Maria do Carmo Favarin ◽  
Rodrigo T Calado ◽  
Ana Paula N Rodrigues Alves ◽  
Cassia Godoi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Conflicts Of Interest ◽  
Calf Serum ◽  
Fluorescent Labeling ◽  
Refractory Anemia ◽  
Spectral Karyotyping ◽  
Banding Analysis

Abstract Abstract 1718 Cytogenetic findings in bone marrow cells of MDS patients are essential for a correct diagnosis and classification of the disease and constitute one of the most important independent prognostic factors. The classical cytogenetic analysis, however, often cannot be fully resolved by G-banding because of the presence of marker chromosomes, rings or unidentified material attached to chromosomes. Spectral karyotyping (SKY) has proven to be an important tool for the interpretation of complex karyotypes or identification of suitable abnormalities in hematological malignancies. By using SKY analysis in combination with G-banding were identified new clonal chromosomal abnormalities “masked” by the limited resolution of classical cytogenetic. As a consequence changes in IPSS score were observed. Bone marrow samples of 46 (forty-six) MDS patients were incubated in RPMI 1640 with 20% fetal calf serum for 72h at 37°C. Chromosome preparations were obtained by using standard procedures and the subsequent cytogenetic analysis and interpretation were made according to ISCN 2009. The patients studied were classified as refractory anemia (RA) and refractory anemia with ringed sideroblast (RARS), with less than 5% blast. Slides for SKY were prepared by using the same fixed chromosome preparations, stored at −20°C, as employed for G-banding analysis. Chromosome labeling was performed with the SKY fluorescent labeling kit (Applied Spectral Imaging, Migdal HaEmek, Israel) according to the manufacturer's protocol. A minimum of twenty metaphases were analyzed using the SkyView 5.5 software (ASI, Carlsbad, CA, USA). In a group of 46 subjects studied, the cytogenetic analysis (G-banding) showed chromosomal aberrations in 13 patients (54.2%) and normal karyotype was observed in 11 subjects (45.8%). The abnormalities observed were dup(1)(q21q32), inv(3)(q21q26), t(3;3)(q21;q26), +4, del(5)(q31), −7, del(7)(q22q36), +8, add(17)(p12), +i(17)(q10), del(20)(q11). The group with normal cytogenetic, SKY analysis revealed “masked” chromosomal abnormalities in 6 patients, being t(7;9)(q36;q34), ins(1;6)(q21;?), t(11;12)(p15;q24.1), ins(3;5)(p21;?), t(8;16)(q23;?) and ins(6;11)(q21;?). Among 13 cases studied with previous chromosomal abnormalities by G-banding analysis, SKY identified additional abnormalities in 8 patients. Some abnormalities found include t(6;9)(q27;q22), t(12;17)(p13;p12) and t(8;11)(p12;q12). For both groups with normal and altered karyotypes, the profile of masked chromosomal abnormalities seen were insertions and translocations involving small segments of chromosomes. In the majority of the cases the frequency of abnormal clones was less than 50%. However, in all patients the abnormalities identified by SKY were classified as clonal. All abnormalities identified were confirmed by FISH, by using a set of probes. SKY analysis has proved to be a promising and reliable method for identification of additional and complex chromosomal abnormalities usually present in a great number of human neoplasias. The contribution for the prognostic information of these new chromosomal abnormalities identified beyond the limited resolution of G-banding in MDS will require a detail analysis of the patients' evolution. Financial Support: FAPESP (Proc. 07/52462-7) Disclosures: No relevant conflicts of interest to declare.

Unprotected freezing of human spermatozoa exerts a detrimental effect on their oocyte activating capacity and chromosome integrity

Zygote ◽  
1996 ◽  
Vol 4 (04) ◽  
pp. 263-268 ◽  
Author(s):  
Andrei V. Rybouchkin ◽  
Paul De Sutter ◽  
Marc Dhont
Keyword(s):  
Assisted Reproduction ◽  
Detrimental Effect ◽  
Chromosomal Abnormalities ◽  
Ethanol Solution ◽  
Human Spermatozoa ◽  
Physical Factors ◽  
Reproductive Characteristics ◽  
Chromosome Integrity ◽  
The Stability ◽  
Mammalian Spermatozoa

SummaryThe influence of unprotected freezing of mammalian spermatozoa on their oocyte activating capacity and chromosome integrity is unknown. However, this type of sperm treatment has been used in assisted reproduction by intracytoplasmic sperm injection in cattle and humans. The mouse oocyte injection test was used to analyse the influence of unprotected freezing of human spermatozoa on their reproductive characteristics. Mouse oocytes were microinjected with intact human spermatozoa or spermatozoa treated with two cycles of unprotected freeze-thawing. Oocytes surviving the injection were either cultured without further treatment or exposed to ethanol solution to induce parthenogenetic activation. Both injected and activated oocytes were used for sperm chromosome analysis. The results revealed a significant reduction in oocyte activating capacity and a tenfold increase in the incidence of structural chromosomal abnormalities in human spermatozoa treated by unprotected freezing. We conclude that unprotected freezing of human spermatozoa has a detrimental effect on their reproductive characteristics. Our data also provide a new perspective on the stability of mammalian spermatozoa to physical factors and demonstrate the importance of detailed analysis of the stability of sperm structures for successful development of new approaches in assisted reproduction.

scholarly journals Antitumor Organometallics. IV. The Mutagenic Potential of Some Diphenylantimony(III) Dithiophosphorus Derivatives

1994 ◽  
Vol 1 (4) ◽  
pp. 291-297 ◽  
Author(s):  
Carmen Socaciu ◽  
Ioan Pasca ◽  
Cristian Silvestru ◽  
Adela Bara ◽  
Ionel Haiduc
Keyword(s):  
Cytogenetic Analysis ◽  
Micronucleus Test ◽  
Ascites Tumor ◽  
Short Term ◽  
Mutagenic Potential ◽  
Tumor Bearing ◽  
Ehrlich Ascites ◽  
Antitumor Properties ◽  
Mutagenic Effects ◽  
Derivatives Of

Two diphenylantimony(III) derivatives of dithiophosphorus ligands, i.e. Ph2SbS2PPh2 and Ph2SbS2P(OPr-i)2, which were previously found to exhibit antitumor properties, have been now investigated for potential mutagenic effects in healthy and Ehrlich ascites tumor-bearing mice. Two short-term tests, i.e. the micronucleus test and the cytogenetic analysis, were used as end-points for mutagenicity. The results are consistent with a mutagenic potential for both organoantimony(III) compounds tested, the effect being higher for the phosphorodithioato derivative.

scholarly journals The Role of Cytogenetic Methods in the Diagnosis of Haematological Diseases

2021 ◽  
Author(s):  
Amina Aščerić ◽  
Mirela Mačkić Durović ◽  
Hilada Nefić
Keyword(s):  
Chromosomal Aberrations ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Haematological Malignancies ◽  
Diagnosis And Prognosis ◽  
Conventional Cytogenetic Analysis ◽  
Frequent Use ◽  
Conventional Cytogenetics ◽  
Cytogenetic Methods

Introduction: Conventional cytogenetics by the use of standard karyotyping allows the study of numerical and structural chromosomal aberrations. Haematological malignancies include a number of cancer types that originate in the blood cells of the bone marrow or of the lymphatic system. Cytogenetic methods are traditionally used for the sake of diagnosis and prognosis of these diseases. However, with the ever more frequent use of molecular methods in the diagnostic laboratories, the importance of the conventional cytogenetic analysis in the diagnosis of haematological diseases needs to be reassessed. Aim: To evaluate the role of cytogenetic methods in the diagnosis of haematological malignancies. Materials and Methods: A retrospective analysis of cytogenetic findings of 146 patients with various haematological malignancies was performed. All of the findings were made over a period of three years at the Centre for Genetics at the Medical Faculty of the University of Sarajevo in Bosnia and Herzegovina. Microsoft Excel 2019 was used for the analysis and presentation of data in the form of tables and graphs. Results: The results of the present study showed that the use of conventional cytogenetic analysis is a good diagnostic method for 50.68% (74) of patients in whom chromosomal aberrations were detected. Conclusion: Cytogenetics remains the most comprehensive method for assessing chromosomal abnormalities due to its ability to detect clinically relevant aneuploidies and additional cytogenetic abnormalities that cannot be detected by locus-specific assays.

scholarly journals KARYOTYPIC ANALYSIS OF CHROMOSOMAL POLYMORPHISM IN RELATION TO REPRODUCTIVE FAILURE

2017 ◽  
Vol 9 (4) ◽  
pp. 140
Author(s):  
Ketan K. Vaghasia ◽  
Nidhi D. Shah ◽  
Parth S. Shah ◽  
Vidhi M. Bhatt ◽  
Sandip C. Shah ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Cytogenetic Analysis ◽  
Reproductive Function ◽  
Chromosomal Polymorphism ◽  
Giemsa Staining ◽  
Karyotypic Analysis ◽  
Blood Samples ◽  
Molecular Studies ◽  
Acrocentric Chromosomes

Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.

scholarly journals Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases

Blood ◽  
1992 ◽  
Vol 79 (9) ◽  
pp. 2384-2391 ◽  
Author(s):  
CH Pui ◽  
AJ Carroll ◽  
SC Raimondi ◽  
MJ Schell ◽  
DR Head ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Lymphoblastic Leukemia ◽  
Collaborative Study ◽  
Prognostic Significance ◽  
Leukemic Cell ◽  
Leukemic Cells ◽  
Newly Diagnosed ◽  
High Frequencies

Cytogenetic analysis of leukemic cells from 2,805 children with newly diagnosed acute lymphoblastic leukemia (ALL) identified 83 cases (3%) that had a stemline with at least one isochromosome. The i(9q) was present in 28 (1%), the i(17q) in 23 (0.8%), and the i(7q) in 23 (0.8%). Other isochromosomes--i(21q), i(6p), i(1q), i(8q), or i(Xq)-- were found in only 12 cases (0.4%). The isochromosome cases were more likely than were other ALL cases to have a pre-B immunophenotype (38% v 25%, P = .02) and leukemic cell hyperdiploidy greater than 50 (37% v 24%, P = .02); five cases had both features. The i(9q) was associated with age greater than 10 years (P less than .05) and the pre-B immunophenotype (P = .05); both the i(17q) and i(7q) had high frequencies of hyperdiploidy greater than 50 (P less than .0001 and P = .05, respectively). The t(1;19)(q23;p13) was a common feature (23%) in cases with the i(9q), i(7q), i(6p), or i(1q). These findings establish the i(9q), i(17q), and i(7q) as nonrandom chromosomal abnormalities in ALL. The prognostic significance of the presence of isochromosome(s) remains to be determined.

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