Chromosomal Studies

Chronic myeloid leukemia (CML) occurs when the pluripotent stem cell undergoes a mutation that leads to clonal myelo-proliferation, generating an overproduction of mature and immature granulocytes. In 90% of CML cases, patients have the Ph+ Philadelphia chromosome, which represents a reciprocal translocation between chromosomes 9 and 22. Treatment for the comorbidity is performed with TKI tyrosine kinase inhibitors such as imatinib, nilotinib, bosutinib and ponatinib significantly improve response and prolong patient survival. This work is an integrative literature review developed according to the construction of the guiding question, literature search, data collection, categorization of selected studies, analysis, interpretation and discussion of results. In general, tyrosine kinase inhibitors have a similar principle of action, competing for the binding sites of the BCR-ABL enzyme with ATP, preventing prooncogenic activities; however, despite their promise, these drugs have hematological and non-hematological side effects. In view of this, challenges such as more accurate prognoses, safe dosage options and facing cases of multidrug resistance to standard therapy drugs. From the investigation of genetic characteristics combined with the use of sequencing technologies, such as predicting the course of the disease, they will have a greater probability of success.

The 3H-uridine laoellmg patterns in J and U polytene chromosomes of Drosophila subobscura were determined. The analysis was carried out in two developmental stages and in two strains proceeding from the same geographical origin whose genotypes were: Jst/Jst; U1+2/U1+2 and J,/J,; U1+2+8/U1+2+8 respectively. It was observed that the labelling pattern coincided very approximately with the puffing pattern in the same stages and chromosomal arrangements. Comparison of the 3H-Uridine incorporation patterns between chromosomal arrangements showed light quantitative differences. These results are discussed in relation to the inversion effect.

A first case of polymorphism of a pericentric inversion on X-chromosome was detected in six wild populations of Drosophila willistoni from islands and the mainland of Santa Catarina State, southern Brazil. The high representativeness of this inversion, with frequencies between 10 to 42 % in samples of wild populations from Santa Catarina State, suggests that it could be adaptive and that the establishment of such polymorphism was probably due to crossing over restriction in the chromosomal region involved in the rearrangement.

Chromosomal polymorphism in natural populations of Drosophila willistoni from Uruguay and southern Brazil was investigated in order to understand the genetic characteristics and evolutionary potential of these almost geographically marginal populations. The level of chromosomal polymorphism in samples from Uruguay was higher than in those from the southernmost Brazilian state of Rio Grande do Sul. The increase in the polymorphism of these populations, in which the species almost reaches its southern limit, contradicts the low level of paracentric inversion polymorphism expected under the central-marginal chromosomal polymorphism cline previously reported. The high frequency of some inversions and the presence of unique inversions in samples from Uruguay indicate the uniqueness of these populations.

Background:
Generally, genetic disorders are a leading cause of spontaneous abortion, neonatal death, increased morbidity and mortality in children and adults as well. They a significant health care and psychosocial burden for the patient, the family, the healthcare system and the community as a whole. Chromosomal abnormalities occur much more frequently than is generally appreciated. It is estimated that approximately 1 of 200 newborn infants had some form of chromosomal abnormality. The figure is much higher in fetuses that do not survive to term. It is estimated that in 50% of first trimester abortions, the fetus has a chromosomal abnormality.
Aim of the study:
This study aims to shed some light on the results of chromosomal studies
performed during 7 year-period as these represent a sample of the only registered data available on genetic disorders in Iraq.
Patients and Methods:
For the period extending from Jan. 1st, 2000 till Jan. 1st, 2007, among all cases referred to the Genetic Clinic, Consultation Clinic, Medical City in Baghdad, Iraq, only those cases indicated for chromosomal study for diagnosis and then genetic counseling were included in this study; they were grouped and then subgrouped accordingly.
Results:
During the study period, 1720 cases needed chromosomal study for the sake of genetic counseling out of around 5000-8000 cases referred to the clinic during the same period. Mothers having an abnormal child or adverse pregnancy outcome constituted 30.79% of all cases included, followed by the group of children with multiple congenital abnormalities (20.14%), and then cases with primary amenorrhoea (13.97%) and ambiguous genitalia (13.5%). The overall positive findings in the chromosomal studies were 217/1720 (12.61%).
Conclusions:
Genetic disorders have a great impact on the practice of medicine in all specialties in Iraq. There is a need for a new policy for indications of karyotyping, especially at times of stress.

Chromosomal polymorphism in natural populations of Drosophila willistoni from Uruguay and southern Brazil was investigated in order to understand the genetic characteristics and evolutionary potential of these almost geographically marginal populations. The level of chromosomal polymorphism in samples from Uruguay was higher than in those from the southernmost Brazilian state of Rio Grande do Sul. The increase in the polymorphism of these populations, in which the species almost reaches its southern limit, contradicts the low level of paracentric inversion polymorphism expected under the central-marginal chromosomal polymorphism cline previously reported. The high frequency of some inversions and the presence of unique inversions in samples from Uruguay indicate the uniqueness of these populations.

stimulating hormone (FSH), prolactin, testosterone, oestradiol, and sex hormonebinding globulin. The hypothalamuspituitary-testis axis was assessed using the gonadotrophin-releasing hormone (GnRH) test. All participants also received an injection of human chorionic gonadotrophin (hCG) and serum testosterone was determined before the hCG injection and on the third day afterwards. Conventional karyotype analysis and triple-colour fluorescence in situ hybridization for chromosomes X, Y and 18 were conducted in all patients and controls. RESULTS The mean basal serum levels for LH, FSH, and testosterone in patients with hepatitis C was significantly lower than the mean for normal controls (P = 0.01). The injection of GnRH analogue did not yield significantly higher FSH and LH levels in the patients than in normal controls (P = 0.001). In patients with chronic hepatitis C, the mean total sperm count, motility and normal morphology was significantly lower than in controls (P = 0.001). There was a significantly greater frequency of disomy in men with chronic hepatitis C than controls for chromosomes 18, X, and Y (P = 0.01). CONCLUSIONS Patients with chronic hepatitis C are at risk of showing sperm chromosomal abnormalities, the incidence of which is higher in patients with more advanced disease. Hypogonadotrophic hypogonadism is caused by the selective loss of pituitary gonadotrophin function. Further studies are needed to replicate our results. KEYWORDS hypothalamic-pituitary-testis axis, male, hormones, semen, hepatitis C Study Type-Aetiology (case series) Level of Evidence 4 OBJECTIVE To evaluate reproductive endocrine profile, sperm chromosomal abnormalities, and semen quality in patients with chronic hepatitis C. PATIENTS, SUBJECTS AND METHODS In all, 82 patients with chronic hepatitis C, aged 18-60 years, were recruited for the study; 76 age-matched healthy male volunteers served as controls. All participants provided a medical history and had a complete physical examination and routine semen analysis. Two blood samples were drawn from each participant at 15-min intervals to determine the resting levels of luteinizing-hormone (LH), follicle

stimulating hormone (FSH), prolactin, testosterone, oestradiol, and sex hormonebinding globulin. The hypothalamuspituitary-testis axis was assessed using the gonadotrophin-releasing hormone (GnRH) test. All participants also received an injection of human chorionic gonadotrophin (hCG) and serum testosterone was determined before the hCG injection and on the third day afterwards. Conventional karyotype analysis and triple-colour fluorescence in situ hybridization for chromosomes X, Y and 18 were conducted in all patients and controls. The mean basal serum levels for LH, FSH, and testosterone in patients with hepatitis C was significantly lower than the mean for normal controls ( P = 0.01). The injection of GnRH analogue did not yield significantly higher FSH and LH levels in the patients than in normal controls ( P = 0.001). In patients with chronic hepatitis C, the mean total sperm count, motility and normal morphology was significantly lower than in controls ( P = 0.001). There was a significantly greater frequency of disomy in men with chronic hepatitis C than controls for chromosomes 18, X, and Y ( P = 0.01). Patients with chronic hepatitis C are at risk of showing sperm chromosomal abnormalities, the incidence of which is higher in patients with more advanced disease. Hypogonadotrophic hypogonadism is caused by the selective loss of pituitary gonadotrophin function. Further studies are needed to replicate our results. hypothalamic-pituitary-testis axis, male, hormones, semen, hepatitis C Study Type -Aetiology (case series) Level of Evidence 4 To evaluate reproductive endocrine profile, sperm chromosomal abnormalities, and semen quality in patients with chronic hepatitis C. In all, 82 patients with chronic hepatitis C, aged 18-60 years, were recruited for the study; 76 age-matched healthy male volunteers served as controls. All participants provided a medical history and had a complete physical examination and routine semen analysis. Two blood samples were drawn from each participant at 15-min intervals to determine the resting levels of luteinizing-hormone (LH), follicle-

In contemporary science of population genetics it is equally complex and important to visualize how adaptive limits of individual variation are determined, as well as to describe the amount and sort of this variation. Almost all century the scientists devoted their efforts to explain the principles and structure of biological variation (genetic, developmental, environmental, interactive, etc.), basing its maintenance within existing limits mostly on equilibria proclaimed by Hardy-Weinberg rules. Among numerous model-organisms that have been used to prove these rules and demonstrate new variants within mentioned concepts, Drosophila melanogaster is a kind of queen that is used in thousands of experiments for almost exactly 100 years , with which numerous discoveries and principles were determined that later turned out *This paper is dedicated to Professor Janko Dumanović, who devoted his fiftyyears efforts to join applicable and fundamental data in science of Genetics.

Chromosomal polymorphism in natural populations of Drosophila willistoni from Uruguay and southern Brazil was investigated in order to understand the genetic characteristics and evolutionary potential of these almost geographically marginal populations. The level of chromosomal polymorphism in samples from Uruguay was higher than in those from the southernmost Brazilian state of Rio Grande do Sul. The increase in the polymorphism of these populations, in which the species almost reaches its southern limit, contradicts the low level of paracentric inversion polymorphism expected under the central-marginal chromosomal polymorphism cline previously reported. The high frequency of some inversions and the presence of unique inversions in samples from Uruguay indicate the uniqueness of these populations.

Over the past century, man-made electromagnetic fields (EMF) have changed the natural environment, representing one of the most common and rapidly increasing environmental factors as technology advances. Numerous studies of biological effects of exposure to EMF have been performed on Drosophila during the last 30 years, showing contrasting results. In an attempt to determine whether EMF exposures might affect the development of Drosophila, the present study examines phenotypic variations through direction and range of changes in several fitness components and wing length and width, of Drosophila subobscura isofemale lines, affected by 50 Hz EMF. Embryonal and early post-embryonal stages were exposed to homogeneous sinusoidal 0.25 mT EMF of 50 Hz. The EMF exposure caused a significantly prolonged developmental time and significantly increased the wing size with the opposite direction of directional asymmetry compared to the control group. These results shows that even such a weak EMF has the potential to modulate, through developmental pathways, some of the fitness-related traits, wing size, and wing asymmetry in D. subobscura even after one generation of exposure, showing that extremely low frequency (ELF) EMFs have relevant consequences on development, adult morphology, and fitness.

The effective population size (Ne) represents the number of individuals that can contribute genes equal ly to the next generation and is usually smaller then the actual size of a population. The aims of this study were: (i) to assess the Ne for two Drosophila subobscura populations sampled from geographically close, but ecologically and topologically distinct habitats, (ii) to compare the re sults obtained from two independent approaches for estimating Ne [an ecological (capturemark- release-recapture) and a molecular (microsatellite data, linkage disequilibrium and hete - ro zygote excess)], and (iii) to obtain a long-term Ne estimation using a variety of mutational mo dels for D. subobscura populations. The ecological method showed that the beech wood popu - la tion (B) had a significantly larger Ne compared to the oak wood population (O). Observed sex ratio was in favor of females in both populations studied. The microsatellite analysis of populations showed that short-term effec...

The rat tumor cell lines BSp73AS (AS, nonmetastasizing with pronounced adherent capacities) and BSp73ASML (ASML, highly metastasizing with reduced adherent capacities) were cytogenetically investigated. The ASML cell line is reportedly derived from the AS cell line. Both lines exhibited abnormal numerical and structural chromosomal characteristics. The metastasizing ASML cells showed a higher chromosome number (modal number: 62-63) than the nonmetastasizing AS cells (modal number: 48). The AS karyotype was characterized by the presence of a large metacentric marker chromosome resulting from a Robertsonian translocation (Rb 6.7). This chromosome is as such absent in ASML cells but perhaps it may be present in these cells with a major part of chromosome 7 being deleted. The most interesting feature of the ASML karyotype was the presence of double minutes (DMs) and a homogeneously staining region (HSR) at the telomeric end of chromosome 6. These were peculiar to the ASML cells, being absent in the AS cells. DMs and HSR are reported to be correlated with the resistance to various drugs and with the acquired virulence of tumor cells through gene amplification. Therefore, we assume that in the metastasizing ASML cell line the DMs and HSR were established through genetic selection and that they are probably related to the acquired metastasizing capacity of these cells.

Drosophila willistoni (Insecta, Diptera) is considered a paradigm for evolutionary studies. Their chromosomes are characterized by multiple paracentric inversions that make it hard to identify and describe chromosomal polymorphisms. In the present report we attempted to systematize the description of all the 50 inversions found in the last three decades, since we have been studying the chromosomes of several individuals of 30 different populations, including the one used in the genome sequencing project (Gd-H4-1). We present the photographic register of 11 arrangements in the left arm of the X chromosome (XL), eight in the right arm (XR), 10 in the left arm of chromosome II (IIL), eight in its right arm (IIR) and 13 in chromosome III. This information also includes their breakpoints on the reference photomap. A clear geographic difference was detected in XL and XR, with different fixed arrangements depending on the origin of the population studied. Through the comparison of all X arrangements it was possible to infer the putative ancestral arrangements, i.e., those related to all the remaining arrangements through the small number of inversions that occurred in the past, which we will call XL-A and XR-A. In the autosomes (IIL/IIR and III), fixed inversions were detected, but most are segregating in different frequencies along the geographical distribution of the D. willistoni populations.

In contemporary science of population genetics it is equally complex and important to visualize how adaptive limits of individual variation are determined, as well as to describe the amount and sort of this variation. Almost all century the scientists devoted their efforts to explain the principles and structure of biological variation (genetic, developmental, environmental, interactive, etc.), basing its maintenance within existing limits mostly on equilibria proclaimed by Hardy-Weinberg rules. Among numerous model-organisms that have been used to prove these rules and demonstrate new variants within mentioned concepts, Drosophila melanogaster is a kind of queen that is used in thousands of experiments for almost exactly 100 years (CARPENTER 1905), with which numerous discoveries and principles were determined that later turned out

The phylogenetic relationships among nine entities of Drosophila belonging to the D. willistoni subgroup were investigated by establishing the homologous chromosomal segments of IIR chromosome, Muller's element B (equivalent to chromosome 2L of D. melanogaster). The sibling species of the D. willistoni group investigated include D. willistoni, D. tropicalis tropicalis, D. tropicalis cubana, D. equinoxialis, D. insularis and four semispecies of the D. paulistorum complex. The phylogenetic relationships were based on the existence of segments in different triads of species, which could only be produced by overlapping inversions. Polytene banding similarity maps and break points of inversions between species are presented. The implications of the chromosomal data for the phylogeny of the species and comparisons with molecular data are discussed. The aim of this study is to produce phylogenetic trees depicting accurately the sequence of natural events that have occurred in the evolution of these sibling species.

Introduction: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy. It affects 1:667 males. It is a major cause of male factor infertility due to the associated testicular atrophy. This study aims to describe the karyotype pattern identified in a cohort of Sri Lankan infertile males referred for cytogenetic testing prior to undergoing testicular biopsy. Materials and methods: The karyotype reports of males with severe oligozoospermia (sperm cell count<5×106 cells/ml in seminal fluid analysis) and non-obstructive azoospermia, who were referred for karyotyping between January 2010 and February 2019 were maintained prospectively in an anonymized database and analysed retrospectively. All patients were referred from a single urological practice prior to undergoing testicular biopsy. Karyotyping was performed on routinely cultured lymphocytes after GTG-banding according to the guidelines of the International System for Human Cytogenetic Nomenclature (2016). Results: A total of 69 infertile males underwent karyotyping. 40 (58.0%) had azoospermia and 29 (42.0%) had severe oligozoospermia. Abnormal karyotypes were seen in 14 (20.3%) males, comprising of 11 (78.6%) with KS (47,XXY) and 3 (21.4%) with 46,XX karyotype. Polymerase chain reaction for SRY gene was positive in one male with 46,XX karyotype. Among the KS patients, 6 (54.6%) had azoospermia and 5 (45.5%) had severe oligozoospermia. Conclusions: KS accounted for more than two-thirds of the chromosomal anomalies among the infertile males referred for karyotyping. These findings highlight the need for cytogenetic evaluation of severe oligozoospermic and azoospermic males prior to undertaking extensive invasive investigations and treatment measures in both partners.

stimulating hormone (FSH), prolactin, testosterone, oestradiol, and sex hormone-binding globulin. The hypothalamus-pituitary-testis axis was assessed using the gonadotrophin-releasing hormone (GnRH) test. All participants also received an injection of human chorionic gonadotrophin (hCG) and serum testosterone was determined before the hCG injection and on the third day afterwards. Conventional karyotype analysis and triple-colour fluorescence in situ hybridization for chromosomes X, Y and 18 were conducted in all patients and controls. RESULTS The mean basal serum levels for LH, FSH, and testosterone in patients with hepatitis C was significantly lower than the mean for normal controls (P = 0.01). The injection of GnRH analogue did not yield significantly higher FSH and LH levels in the patients than in normal controls (P = 0.001). In patients with chronic hepatitis C, the mean total sperm count, motility and normal morphology was significantly lower than in controls (P = 0.001). There was a significantly greater frequency of disomy in men with chronic hepatitis C than controls for chromosomes 18, X, and Y (P = 0.01). CONCLUSIONS Patients with chronic hepatitis C are at risk of showing sperm chromosomal abnormalities, the incidence of which is higher in patients with more advanced disease. Hypogonadotrophic hypogonadism is caused by the selective loss of pituitary gonadotrophin function. Further studies are needed to replicate our results.

Patenković A., T. Savić, B. Kenig, Z. Kurbalija Novičić, M. Anđelković (2015): The impact of extremely low frequency electromagnetic field (50 hz, 0.25 mt) on fitness components and wing traits of Drosophila subobscura, Genetika, Vol 47, No. 3, 967-982 Over the past century, man-made electromagnetic fields (EMF) have changed the natural environment, representing one of the most common and rapidly increasing environmental factors as technology advances. Numerous studies of biological effects of exposure to EMF have been performed on Drosophila during the last 30 years, showing contrasting results. In an attempt to determine whether EMF exposures might affect the development of Drosophila, the present study examines phenotypic variations through direction and range of changes in several fitness components and wing length and width, of Drosophila subobscura isofemale lines, affected by 50 Hz EMF. Embryonal and early post-embryonal stages were exposed to homogeneous sinusoidal 0.25 mT EMF of 50 Hz. The EMF exposure caused a significantly prolonged developmental time and significantly increased the wing size with the opposite direction of directional asymmetry compared to the control group. These results shows that even such a weak EMF has the potential to modulate, through developmental pathways, some of the fitness-related traits, wing size, and wing asymmetry in D. subobscura even after one generation of exposure, showing that extremely low frequency (ELF) EMFs have relevant consequences on development, adult morphology, and fitness.

Local adaptation to environmental stress at different levels of genetic polymorphism in various plants and animals has been documented through evolution of heavy metal tolerance. We used samples of Drosophila subobscura populations from two differently polluted environments to analyze the change of chromosomal inversion polymorphism as genetic marker during laboratory exposure to lead. Exposure to environmental contamination can affect the genetic content within a particular inversion and produce targets for selection in populations from different environments. The aims were to discover whether the inversion polymorphism is shaped by the local natural environments, and if lead as a selection pressure would cause adaptive divergence of two populations during the multigenerational laboratory experiment. The results showed that populations retain signatures from past contamination events, and that heavy metal pollution can cause adaptive changes in population. Differences in inversion polymorphism between the two populations increased over generations under lead contamination in the laboratory. The inversion polymorphism of population originating from the more polluted natural environment was more stable during the experiment, both under conditions with and without lead. Therefore, results showed that inversion polymorphism as a genetic marker reflects a strong signature of adaptation to the local environment, and that historical demographic events and selection are important for both prediction of evolutionary potential and long-term viability of natural populations.

The present report is a humble submission of information pertaining to our College for assessment and accreditation. It is not a more plethora of achievements; rather, it is revelation of a path we have adhered to. Let us invite you to reel through the pages and be a part of our legacy.

Dr. H.K. Garg, Coordinator, NAAC & IQAC

The Quality Assurance Cell has organized a One week Capacity Building Program on Quality Sustenance & Faculty Development. The program has been meticulously customized to let the faculty manage their personal, academic, intellectual and fiscal portfolio besides delivering quality in their daily academic and executive pursuits. The upcoming week shall be peppered with a series of Guest Lectures, Group Discussions and Brainstorming Sessions on diverse topics to cherish the veteran minds. Hope the program would bring productive outcome.

Banding techniques are useful for marking specific regions of chromosomes, which otherwise exhibit morphological resemblances to a certain extent. Cbanding, commonly called constitutive heterochromatin, is frequently used as an approach to resolve variations in terms of amount and distribution of heterochromatin among phylogenetically unrelated species. Another pattern i.e. G-banding is believed to mark the regions rich in guanine and cytosine that replicate DNA early in the synthesis phase of cell cycle. In the present communication, a simple technique has been described, to demonstrate banding sequences, conveniently by stressing chromosomal squash with an alkali, followed by saline treatment (C-band). G-bands can be obtained by exposing metaphase plates to trypsin for a controlled time period before staining with Giemsa-buffer solution. Certain measures have been taken to overcome difficulties, that generally arise, in demonstration of chromosomal bands.