scholarly journals Chromosomal analysis of Breeding bulls using lymphocyte culture

2012 ◽  
Vol 29 (1) ◽  
pp. 17-21 ◽  
Author(s):  
D J Patel ◽  
A J Patel ◽  
R K Patel ◽  
P R Parekh

Chromosomal aberrations or abnormal karyotypes could be one reason for reproductive failure in breeding bulls. The objective of the study was to detect chromosomal abnormalities and their relation with fertility problem in cattle and water   buffalo breeding bulls. Blood samples were collected from 30 buffalo bulls and 23 Holstein or Holstein-Friesian cross bred bulls for lymphocyte culture. No gross chromosomal abnormality was detected. However, a few samples exhibited polyploidy, premature centromeric division, chromosomal fragmentation, aneuploid cells, fragile site, chromatid gaps or breaks. These aberrations were not consistent feature in a particular animal; therefore, the aberrations may not have obvious effects on fertility. However, such   aberrations should be scored in regular screening as a high percentage of such abnormalities can be associated with reduced fertility. DOI: http://dx.doi.org/10.3329/bvet.v29i1.11885 Bangl. vet. 2012. Vol. 29, No. 1, 17-21 

Blood ◽  
1967 ◽  
Vol 30 (6) ◽  
pp. 738-748 ◽  
Author(s):  
K. C. DAS ◽  
B. K. AIKAT

Abstract Chromosome studies were carried out in five cases of multiple myeloma by peripheral leukocyte culture and direct preparation from bonemarrow cells. No chromosomal abnormality was detected by leukocyte culture in any of these cases. Analysis of bone marrow metaphase plates revealed abnormalities in four out of five cases. Chromosomal changes were characterized by their variability from case to case, as well as among different groups of cells in individual cases. Both numerical and structural anomalies were encountered. The chromosome series more frequently involved were C, A, G and B in decreasing order. The diverse chromosomal aberrations encountered in these four cases of multiple myeloma are reminiscent of those described in acute leukemias.


2018 ◽  
Vol 8 (2) ◽  
pp. 126-131
Author(s):  
Mansura Khan ◽  
Mohammad Moniruzzaman ◽  
Zarina Akhter ◽  
Md Azmal Hossain ◽  
Ashesh Kumar Chowdhury

Background: Clinical phenotype in Klinefelter syndrome (KS) shows utmost contrariety according to the genetic presentation. The karyotype 47, XXY is one of the commonest types of sex chromosomal abnormality in males presenting with infertility, hypogonadism, small penis, gynaecomastia and tall stature. Cytogenetic study is the only way to differentiate between chromosomal abnormality and other androgen deficiency disorders. The aim of this study was to investigate cytogenetic and phenotypic profile of Klinefelter syndrome in a group of referred patients with suspected genetic disorders.Methods: This observational study was carried out at the Cytogenetic Laboratory of the Department of Immunology BIRDEM General Hospital for a period of seventeen years from 2000 to 2016. A total of 9,216 patients suspected for different chromosomal abnormalities (e.g. numerical chromosomal disorders, primary amenorrhoea, ambiguous genitalia etc.) were included in this study referred by physicians of various discipline from different areas of Bangladesh. From the patients referred for cytogenetic study, detailed family history and physical findings were noted. Complete genetic examination and pedigree construction was done to exclude non-chromosomal causes of anomalies. For cytogenetic analysis, peripheral lymphocyte culture by the standard method using the G-banding technique was employed.Results: In this study 1.67% (154) of referred patients were diagnosed as Klinefelter syndrome in cytogenetic study and most of them were diagnosed in their adulthood between 20-29 years of age. Classical cytogenetic form of KS-47, XXY (87%) were most common followed by other mosaic and supernumerary X chromosome aneuploidy. Most of the patients presented with tall stature (61.7%) followed by other features such as gynaecomastia (45.5%), eunuchoid skeleton (29.8%), sexual dysfunction (34.41%), small penis (22.7%), and delayed development of secondary sex characteristics (22.7%).Conclusion: Diagnosis of Klinefelter syndrome in early age before puberty is needed to be differentiated from other related disorders and thereby improving the quality of life by providing appropriate and timely treatment. Therefore, we have to focus to improve our overall capacity to diagnose genetic disorders for proper interventionBirdem Med J 2018; 8(2): 126-131


2020 ◽  
Author(s):  
Jing Li ◽  
Fuli Zhang ◽  
Bo Sun ◽  
Shanjun Dai ◽  
Qingling Yang ◽  
...  

Abstract STUDY QUESTION Are blastocyst culture and cryopreservation in ART associated with chromosomal abnormalities in miscarried products of conception (POC)? SUMMARY ANSWER Frozen blastocyst transfer in women aged 35 years or older and frozen embryo transfer (ET) (including both cleavage-stage embryo and blastocyst) in women aged <35 years are associated with decreased frequencies of embryonic chromosomal abnormalities in miscarried POC. WHAT IS KNOWN ALREADY Blastocyst culture and embryo cryopreservation have been previously associated with favorable ART treatment outcomes and widely applied in clinical practice. However, the association between these embryo manipulation procedures and embryonic chromosomal abnormalities has not been evaluated to the best of our knowledge. STUDY DESIGN, SIZE, DURATION This retrospective study included a total of 720 patients who underwent IVF/ICSI, and the retained POC were obtained. A single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) of all miscarried conceptuses was performed. PARTICIPANTS/MATERIALS, SETTING, METHODS This study was based on the Clinical Reproductive Medicine Management System/Electronic Medical Record Cohort Database (CCRM/EMRCD) at our center. In total, 720 miscarried POCs were collected from patients undergoing ART (including fresh cleavage-stage ET, fresh blastocyst transfer, frozen cleavage-stage ET and frozen blastocyst transfer), and the incidences and profiles of cytogenetic abnormalities in the miscarried conceptuses were measured via SNP-based CMA. MAIN RESULTS AND THE ROLE OF CHANCE The chromosomal abnormality rate in POC varied from 33.7% to 66.7% among the different ET strategies. In the patients aged ≥35 years, frozen blastocyst transfer was significantly associated with a lower incidence of chromosomal aberrations in the POCs (adjusted odds ratio (aOR): 0.171 (95% CI: 0.040–0.738); P = 0.018) than fresh blastocyst transfer. In the patients aged <35 years, frozen ET was significantly associated with a lower incidence of chromosomal aberrations than fresh ET in both cleavage-stage ET cycles and blastocyst transfers cycles (aOR: 0.545 (0.338–0.879), P = 0.013; and aOR: 0.357 (0.175–0.730), P = 0.005, respectively). Trisomy was the most frequent abnormal embryonic karyotype in the different ET strategies, and its frequency significantly differed among strategies (P < 0.05). LIMITATIONS, REASONS FOR CAUTION This study was retrospectively designed, and we cannot draw any definite conclusions from our results regarding the adequate safety of embryo cryopreservation in ongoing pregnancy. WIDER IMPLICATIONS OF THE FINDINGS To our knowledge, this is the first study assessing the associations of ET strategies with the probability of miscarriage associated with embryonic chromosomal abnormalities. However, the underlying mechanism of these associations is unknown; this study may promote research concerning ET strategies and promote comprehensive consultations and recommendations for patients. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by the Natural Science Foundation of China (Grant No.81571409), Science and Technology Research Project of Henan (Grant No. 172102310009) and Medical Science and Technology Research Project of Henan (Grant No. 201701005). The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A


2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.


Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.


Author(s):  
Jayprakash Shah

ABSTRACT Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising. Karyotype is the final diagnostic tool for the confirmation, but it is associated with risk of abortion with the invasive procedure required for it. Sonography markers can be a good tool along with biochemical markers to reduce this risk with better pick rate of chromosomal abnormalities during prenatal period.


2015 ◽  
Vol 69 (1-2) ◽  
pp. 13-20
Author(s):  
Branislava Belic ◽  
Marko Cincovic ◽  
Maja Dosenovic ◽  
Dragica Stojanovic ◽  
Zorana Kovacevic

Routine analysis of blood parameters requires high precision. Therefore a significant number of methods and recommendations has been developed to ensure the obtaining of precise results. The aim of this study was to investigate whether the type of anticoagulant affects the values of biochemical parameters in the blood of dairy cows in relation to the values obtained from the serum. The study was carried out on 20 healthy cows of Holstein- Friesian breed in the second month of lactation. The blood was taken by venipuncture from v.coccigea. There were used five types of vacutainers as follows: for the serum separation, with heparin, EDTA, citrate, and fluoride. Samples from each cow were taken in all five types of vacutainers respectively. There was determined the concentration of: albumin, total protein, glucose, Ca, P, BHB, NEFA, urea, cholesterol, triglycerides, ALT, AST, AP, GGT and bilirubin. The results of the analysis of samples that contained anticoagulants were compared statistically with analysis in serum that was considered to be the control one. It was also calculated the percentage of deviation in average values of concentration of metabolites obtained from samples with different anticoagulants in regard to the serum value. The results of the investigation show that anticoagulants influence the values of biochemical parameters in the blood of cows. In the samples where heparin was used as anticoagulant there was found higher albumin level (deviation 4.1%) as well as total protein (1.4%), but lower value of alkaline phosphatase activity relative to the serum (-33%). In the samples in which EDTA was used there were significantly lower levels of total protein (-5.8%), Ca (-49.6%), P (-17.7%), AP (-32%) and higher value AST (10.6%) compared to serum. In the samples where citrate or fluoride were used as anticoagulants there were found lower values of total protein, albumin, glucose (only citrate), Ca, P, BHB, NEFA, urea (only citrate), cholesterol, AP and GGT (only fluoride) and lower bilirubin when using citrate or higher when using fluoride, in comparison to the serum. Deviations of biochemical parameters measured from blood samples that were in citrate or fluoride were as follows: total protein (-5.3%, -5.2%), albumin (-7%, -5.7%), glucose (only citrate -6.2%), Ca (-55%, -82%), P (-29%, -24%), BHB (-53%, -80%), NEFA (-62.1%, -79 , 4%), urea (only citrate, -25.5%), cholesterol (-28.6%, -28.4%), AP (-38%, -32%), and GGT (only -17 fluoride, 8%) and higher bilirubin (-22.8%, 64.4%). For routine clinical biochemical analysis of blood of cows it is the most reliable to use the samples with heparin as an anticoagulant, because the use of other anticoagulants gives large variations in the values of biochemical parameters in relation to serum.


2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16


2007 ◽  
Vol 18 (3) ◽  
pp. 1044-1055 ◽  
Author(s):  
Min Zhu ◽  
Robert S. Weiss

Targeted disruption of the mouse Hus1 cell cycle checkpoint gene results in embryonic lethality and proliferative arrest in cultured cells. To investigate the essential functions of Hus1, we developed a system for the regulated inactivation of mouse Hus1 in primary fibroblasts. Inactivation of a loxP site-flanked conditional Hus1 allele by using a cre-expressing adenovirus resulted in reduced cell doubling, cell cycle alterations, and increased apoptosis. These phenotypes were associated with a significantly increased frequency of gross chromosomal abnormalities and an S-phase–specific accumulation of phosphorylated histone H2AX, an indicator of double-stranded DNA breaks. To determine whether these chromosomal abnormalities occurred randomly or at specific genomic regions, we assessed the stability of common fragile sites, chromosomal loci that are prone to breakage in cells undergoing replication stress. Hus1 was found to be essential for fragile site stability, because spontaneous chromosomal abnormalities occurred preferentially at common fragile sites upon conditional Hus1 inactivation. Although p53 levels increased after Hus1 loss, deletion of p53 failed to rescue the cell-doubling defect or increased apoptosis in conditional Hus1 knockout cells. In summary, we propose that Hus1 loss leads to chromosomal instability during DNA replication, triggering increased apoptosis and impaired proliferation through p53-independent mechanisms.


2020 ◽  
Vol 6 (6) ◽  
pp. FSO580
Author(s):  
Muhammad Sanusi Yahaya ◽  
Mohd Shahrom Salisi ◽  
Nur Mahiza Md Isa ◽  
Goh Yong Meng ◽  
Abdwahid Haron

Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may directly affect meiosis, gametogenesis and the viability of conceptus. In many instances, balanced structural rearrangements can be transmitted to offspring, affecting fertility in subsequent generations. Aim: This work investigated the occurrence of chromosome aberrations in Rusa timorensis, Rusa unicolor and Axis axis raised in a nucleus deer farm in Malaysia with a history of declining fertility of unknown origin. Materials & methods: Blood samples were collected from 60 animals through venipuncture, cultured for 72 h and arrested at metaphase. SmartType® and Ideokar® software were used to karyotype the chromosomes. Results: We found 15 out of the 60 animals screened from both sexes harbor some form of chromosome aberration. Chromosomal aberrations exist at the rate of 25% and may not be unconnected with the observed reduced fertility on the farm. Further investigations should be carried out, especially on the offspring of the studied animals to transmission of these aberrations. The animals that are confirmed to transmit the chromosomal aberrations should be culled to arrest the propagation of their abnormalities.


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