Indian Journal of Genetics and Molecular Research

Background: Juvenile myoclonic epilepsies (JME) have a complex genetic disease and involved different susceptible idiopathic generalized epilepsy (IGE) genes in JME patients. JME inheritance is autosomal dominant in all BRD2 mutations show heterozygosity in affected individuals. The JME is estimated around 3 in 10,000 with peak age at 14.5 to 15.5 years that affect both genders. Non synonymous single nucleotide polymorphisms  (nsSNPs) are coding variants that changes amino acid in their corresponding proteins, because nsSNPs can affect protein function. The discoveries of these genes, related to JME will provide the clinical practice and improve diagnosis and treatment of epilepsy. Objectives: 1. To support innovative research, of the highest scientific merit, that has the potential for patient benefit. 2. To identify the mutations in BRD2 gene of JME patients Methods: The case-control study design will performed molecular a molecular screening of BRD2 gene exonic sequences for the detection of mutations by genomic PCR amplification and direct sequencing through ABI PRISM® 377 DNA Analyzer. Result: Three missesnse mutations were observed in exon 7 of BRD2 gene in unrelated JME cases from south Indian population. 

Conclusion: BRD2 gene polymorphism could significantly promising therapeutic targets in the prevention of JME. Loss of protein stability leads to loss of enzymatic activity of hyper neuronal excitability and possibly to the accumulation of the protein in cells.

Context: Variants of standard translocations in leukemia are occasionally suspected initially by fluorescence in-situ hybridization (FISH), due to a different signal pattern. In many cases, this is due to the involvement of an additional chromosome, eading to a complex three-way translocation. If the breakpoints are in the telomeric region, the cryptic translocation may not be visible on karyotyping. We describe here the characterization of a variant AML1/ ETO fusion involving 6q in a patient with AML-M2 Aims: To identify and confirm the extra chromosome involved in a variant AML1/ETO translocation in a case of AML-M2. 

Settings and Design: First routine FISH for AML1/ ETO and conventional karyotyping was carried out. Reflex FISH was set up on previously Giemsabanded metaphases in two rounds to confirm that chromosome 6 was additionally involved in the AML1/ETO translocation. 

Material and Methods: Heparinized bone marrow aspirate was obtained from a suspected case of AML-M2. Cytogenetic analysis by routine FISH for AML1/ETO and conventional karyotyping was carried out. Reflex FISH was set up on Giemsabanded metaphases in two rounds using probes for AML1/ETO followed by CEP 6.

Results: FISH results showed the presence of a variant signal pattern for translocation AML1/ ETO. Karyotyping of Giemsa-banded metaphases showed suspicion of a three way translocation t (8;6;21) (q22.1;q27;q22.2) which was confirmed by reflex FISH analysis.

Conclusions: In cases with suspicion of a cryptic three way translocation, reflex FISH on previously Giemsa-banded metaphases gives a clue about the additional partner chromosome which can be different in each case.

 Aim: To evaluate the diagnostic utility of Serum Cancer Antigen-125 (CA125) and Carcino embryonic antigen (CEA) and LDH levels in patients suffering from Ovarian Cancer.  

Study Design: A hospital based cross sectional study was conducted on patients attending the Out Patient Department of Gynecology of SGRR Medical College Dehradun (Uttarakhand) during a period of 8 months from June 2017 to January 2018. A total number of 70 cases of ovarian cancer etween the age group 15-75years were selected randomly for the study. 

Inclusion criteria: all patients underwent a tertiary transabdominal and transvaginal sonography and 70 cases of ovarian cancer were selected for the study.

Exclusion criteria: was age less than 15 years and more than 75 years, pregnant women, other Gynecological malignancies, TB, Diabetic Mellitus etc. 

Methodology: All the selected cases of ovarian cancer were subjected to clinical chemistry analysis of serum CA 125, CEA & LDH which was performed on fully automated analyzer 5600 of Orthoclinical Diagnostics.

Result: The serum levels of CA125, CEA and LDH were found to be very high along with a high CA125/CEA ratio. Conclusion: Our results show the importance of CA125, CEA, CA125/ CEA ratio and LDH in the diagnosis and monitoring the efficacy of treatment. Combination of serum tumour markers in the diagnosis of ovarian malignancy.

Background: Chikungunya Virusis a single stranded RNA virus of the genus alphavirus.
The transmission of this virus occurs by the bite of infected mosquitoes. It is characterized by an  brupt onset of fever frequently accompanied by joint pain. 

Aims: Molecular Characterization of  Chikungunya Virus in Serum- Relevance for Disease Management. 

Methods and Materials: 30 cases were considered having symptom of fever suspected to have chikungunya. RNA was isolated from magnetic beads methods which was further studied for Real Time-PCR (RT-PCR).

Results: Among the 30 cases suspected for chikungunya fever, only 18 were positive for the same. Hence, the prevalence was calculated to be 60%. About 39% of the positive cases were in the age range of 21-40 years, which is the active age group of the total positive cases, 66.66% were males and 33.33% were females. The virus can be even transmitted together as a co-infection. Patients infected with chikunguniya virus are more likely to experience symptoms of high fever, severe polyarthralgia and rash with lymphopenia.

Introduction: Down syndrome is the most common genetic disorder throughout the world. There is a lot of literature contributed by various studies; however, very few studies have reported the frequency of various types of cytogenetic abnormalities and their association with various congenital defects in the individuals with Down’s syndrome.

Aim: To establish the clinical and cytogenetic correlation in the Down’s syndrome individuals.

Material and Methods: Retrospective analysis was done in 482 individuals with Down syndrome, who were clinically and cytogenetically evaluated during 2003 to 2015 in Genetic and Health Research Centre, Nashik, India.

Results: Out of 482 cases of Down syndrome studied, free trisomy 21 was identified in 422 cases (87.55%), translocation karyotype was observed in 36 cases (7.47%), mosaicism in 22 cases (4.56%) and two cases did not show any obvious chromosomal abnormality. 207 cases showed cardiac anomaly (42.95%), which were Atrio-Ventricular Canal Defect in 105 cases (51%), Ventricular Septal Defect in 62 cases (30%), Atrial Septal Defects and Patent Ductus Arteriosus in 17 cases each (8%) and Tetralogy of Fallot in 6 cases (3%). The frequencies of chromosomal abnormalities observed in Down’s syndrome cases with cardiac defects was 89.85% (186/207) for free trisomy 21, 8.17% (18/207) for translocation Down syndrome and 1.45% (3/207) for mosaicism. Non cardiac anomalies were observed in 92 patients (19%) and these were mostly in gastrointestinal tract, including duodenal atresia in 44 cases (9%), imperforate anus in 28 cases (6%) and Hirschsprung’s disease in 20 cases (4%). Mosaicism did not show any non-cardiac anomaly. 

Conclusion: Among Down syndrome with all types of chromosomal abnormalities, 42.95% cases had cardiac defects and 19.1% had non-cardiac defects. Cases with trisomy exhibit a common association with occurrence of ventricular septal defect while those with mosaicism, which was minimally found, had an association with Atrial Septal defect. Thus, careful clinical evaluation of both cardiac and noncardiac defects is warranted in all the new-borns with Down syndrome for early intervention and timely managemet.