Indian Journal of Genetics and Molecular Research

Genetic counseling helps people understand and adapt to medical implications about genetic disorders. It involves communication between the client and genetic counselor. Goal of genetic counseling is to provide appropriate options, testing and management strategies in the direction of the disorder and complications associated with it. In directive counseling, counselor plays a significant role by focusing on viewpoints and avoids general advises. Non-Directive counseling is where the counselor allows the client to make own decision according to their perception. Genetic evaluation methods are used to diagnose the genetic disorders, which includes ultrasound, maternal serum screening, karyotyping, FISH, cell free DNA, chorionic villus sampling, amniocentesis, chromosomal microarray, MLPA and whole genome sequencing. In India, the guidelines defined by ICMR are followed in hospitals, universities and clinics practicing genetic counseling.

There are many critical chromosomal aberrations present at the site of nucleotide sequences. For example - tuner syndrome, down syndrome, Cystic Fibrosis, Tay - Sachs disease [13], so in the testing method of fluorescence in situ hybridization (FISH). The labelled DNA probes reciprocal, to regions of the chromosome in question are allowed to hybridize to the preparation of the test sample's chromosomes. A hybridization signal verifies the presence of that chromosomal material in the test sample, whereas the absence of a signal indicates the absence of the material. Diagnostic FISH for Down syndrome would involve the use of labelled probes with sequences complementary to regions traverse chromosome number 21. The presence of three labelled chromosomes would, therefore, be diagnostic of Down syndrome [6].

The Stem Cells are natural as well as organic cells which have ability to be differentiated into other types of cells of body and can multiply to produce similar stem cells. As per the standard definition, a stem cell possesses two properties; firstly the Selfrenewal means ability to undergo numerous cycles of cell division by sustaining its undifferentiated status and secondly the Potency that is the ability to be differentiated into particular cell types. In human being, two broad types of stem cells have been described, the Embryonic Stem Cells (ESCs) which are derived from the inner cell mass of blastocyst and the Adult Stem Cells (ASCs) which are present in the various tissues of body. The aim of this review study is to bring actual facts between the ESCs and the ASCs in human. Related literatures on the subject reviewed through electronic database like PubMed, NCBI, Google Scholar, Web of science etc. The final conclusion was achieved by comparing their structural and functional similarities, dissimilarity, potency, advantages, disadvantages and related recent clinical advancement as regenerative medicine. A number of diseases are being claimed to be treated by the pleuripotent ESCs including blood & immune-system related genetic & malignant disorders, Juvenile diabetes, Parkinson's, Blindness and Spinal cord injuries. On the one side, the uses of the ESCs in research & therapy is controversial as they are derived from 5 days old embryos generated by IVF clinics designated for scientific research and on the other side the ASCs treatments are being employed successfully in many illnesses in last many years especially for treating leukemia & related bone cancers through bone marrow implants. The utilizing ASCs in research and therapy are not as divisive and controversial as that of the ESCs, because the construction of the ASCs does not require the damage of an embryo.

There are many blood borne pathogens, which poses a fatal situations. Hepatitis B virus is one of the most important fatal causative agent for liver cirrhosis and can damage liver. Current study focuses on the various factors associated with the HBV infection. Study reveals about the different HBV Genotypic distribution in a range of HBV DNA Viral Load.

In India, the cases of Hepatitis C Virus are increasing at a very rapid rate. Hepatitis C virus (HCV) often causes persistent infection, and is important factor in the cirrhosis and hepatocellular carcinoma (HCC). Current study focuses on the various factors associated with the HCV infection. Study reveals about the different HCV Genotypic distribution and its RNA viral load in different spectrum. The study also correlates about the evaluation of various other biochemical and serological factors.

The Myelodysplastic Syndromes (MDS) are a group of clonal disorders of the hematopoietic system characterized by the presence of ineffective hematopoiesis, peripheral cytopenias and an increased risk of transformation to acute myeloid leukemia (AML). The pathogenesis of MDS involves a complex pattern of genetic, epigenetic and immune mediated mechanisms. However, recent advances in the understanding of the disease have identified altered epigenetic mechanisms, particularly aberrant DNA methylation as a key pathogenic factor in MDS. Since presently very sparse data is available on the epigenetic regulators and their effect on the methylation machinery, we studied the mutations in the epigenetic regulators i.e. JAK2V617F and IDH-2 ina series of 45 MDS patients and analyzed their effect on the methylation of the four tumor suppressor genes (p15, FHIT, calcitonin and SOCS-1) and clinical profile of MDS patients. We have found JAK2 mutation in 29% and IDH2 in 7% of MDS cases. JAK2 mutation was significantly correlated with the SOCS-1 gene methylation (p<0.05). No effect of IDH2 mutation on methylation was observed. Also, we did not find any correlation of co-occurrence of JAK2 /IDH2 mutation and SOCS -1 methylation on the prognosis and treatment outcome. Our study suggests the importance of epigenetic regulation of SOCS -1 methylation through JAK/STAT pathway in the leukemogenesis.

Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). Cardiac defects occur in 90% of them. The survival in Edwards syndrome has been uniformly poor with less than 10% patients surviving beyond one year. Traditionally, cardiac interventions and surgery were not pursued in view of the dismal outcomes. We present 3 cases of trisomy 18 seen at our institution over the past 3 years. The series represents the spectrum of cardiac malformations in trisomy 18; from complex cardiac defects like complete atrio-ventricular (AV) canal defect and Double outlet right ventricle with ventricular septal defect (DORV-VSD) which are only surgically repairable to a simple lesion like patent ductus arteriosus (PDA) which is amenable to transcatheter device closure. Along with supportive medical care, cardiac palliative or corrective interventions may have a role in keeping the child more comfortable and with a better quality of life even if for a short life span.