Cytogenetic and Fluorescence in situ Hybridization Profile of Pediatric Acute Lymphoblastic Leukemia in a University Hospital in South India.

Objective: The purpose of this study was to evaluate the cytogenetic and fluorescent in situ hybridization (FISH) profile in children with acute lymphoblastic leukemia (ALL), referred to a university hospital in a 5-year 6-month period.

Subjects And Methods: Cytogenetic analysis of the bone marrow aspirate specimens of 91 patients was performed by standard Giemsa (G)-banding and interphase FISH (iFISH).

Results: The frequency of chromosomal abnormalities detected by G-banding was 29.

Association between RAD51, XRCC2 and XRCC3 gene polymorphisms and risk of ovarian cancer: a case control and an in silico study.

Homologous recombination (HR) is one of the important mechanisms in repairing double-strand breaks to maintain genomic integrity and DNA stability from the cytotoxic effects and mutations. Various studies have reported that single nucleotide polymorphisms (SNPs) in the HR-associated genes may have a significant association with ovarian cancer (OCa) risk but the results were inconclusive. In the present study, five polymorphisms of HR-associated genes (RAD51, XRCC2 and XRCC3) were genotyped by allelic discrimination assay in 200 OCa cases and 200 healthy individuals.

A case-control association of RANTES (-28C >G) and CCR5-Delta32 polymorphisms with Parkinson's disease in Indians.

Recent studies have suggested that chemokines and their receptors are involved in several neurodegenerative disorders. Also, numerous lines of evidence have indicated that inflammatory processes are involved in the pathogenesis of Parkinson's disease (PD). We have examined whether single nucleotide polymorphisms at the genes encoding chemokines RANTES (-28 C > G), RANTES (-403 A > G) MCP-1 (-2518 A > G), and chemokine receptors CCR2 (+190 G > A) and CCR5 (-Δ32) were associated with sporadic PD risk in the Indian population.

Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment.

Background: Consanguineous marriage, a common practice in South India, increase the incidence of autosomal recessive diseases such as nonsyndromic hearing loss (NSHL) in offspring. This trend was noted in the children with hearing impairment (HI) who received cochlear implants (CI) at our University hospital in Porur, Chennai, India. To ascertain the genetic etiology of HI in these patients, we performed multiplex ligation-dependent probe amplification (MLPA) analysis.

MicroRNA 146a Polymorphisms and Expression in Indian Children with Acute Lymphoblastic Leukemia.

Background: MicroRNAs (miR) have been reported to be involved in hematopoiesis and in the pathogenesis of several hematological malignant neoplasms. Single-nucleotide polymorphisms (SNPs) in human miR genes may alter the expression of those genes and influence the predisposition to childhood leukemia.

Objective: To evaluate the association of rs2910164 G>C, rs57095329 A>G and the expression of miRNA-146a in ethnic South Asian children with acute lymphoblastic leukemia (ALL).

Association of estrogen, progesterone and follicle stimulating hormone receptor polymorphisms with in vitro fertilization outcomes.

Unlabelled: Despite the advances in in vitro fertilization (IVF), the implantation success rate for infertile women remains approximately only 15%. In this study, we sought to determine whether implantation failure after repeated IVF treatments is influenced by the presence of common variants in estrogen α, progesterone and follicle stimulating hormone receptor genes. The study population included three groups of women: group 1 were 50 women who had the transfer of ≥3 high-quality embryos during the IVF procedure without ever having had a clinical pregnancy; group 2 were 50 women who achieved a clinical pregnancy after ≤3 high-quality embryos transfers and group 3 were 50 control subjects who achieved a clinical pregnancy without any fertility therapy that resulted in a one live-born infant.

A retrospective exploratory study of fetal genetic invasive procedures at a University Hospital.

This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014.

Genetic variation in matrix metalloproteinase MMP2 and MMP9 as a risk factor for idiopathic recurrent spontaneous abortions in an Indian population.

Purpose: Matrix metalloproteinases, MMP2 and MMP9, are found to have an important role during ovulation and pregnancy because of their capacity to degrade components of the extracellular matrix (ECM) thereby facilitating cell migration and angiogenesis. In this respect, the aim of the present study was to evaluate the association of the promoter polymorphisms -1306 C > T and -1562 C/T in MMP2 and MMP9 respectively with couples diagnosed with idiopathic recurrent spontaneous abortions (IRSA). The expression levels of these two genes were also studied in fetal tissue.

Clinical Relevance of Cytokines Gene Polymorphisms and Protein Levels in Gingival Cervical Fluid from Chronic Periodontitis Patients.

Background: Cytokines are suggested to play a role in periodontitis.

Objectives: To determine and compare the levels of Interleukin-1 beta (IL-1β) and Tumor necrosis factor alpha (TNF-α) in gingival crevicular fluid (GCF) samples amongst healthy individuals and those with chronic periodontitis. Further to compare the GCF cytokine levels in three genotype classes defined by the respective gene polymorphisms.

Polymorphic Regions in Fc Gamma Receptor and Tumor Necrosis Factor-α Genes and Susceptibility to Chronic Periodontitis in a Cohort From South India.

Background: Polymorphisms in the immunoglobulin G Fc receptor II (FcGR) and tumor necrosis factor-α (TNFA) genes are known to influence pathogenesis and severity of several inflammatory conditions. Association of FcGR and TNFA gene polymorphisms with chronic periodontitis (CP) susceptibility has been found to be diverse among different ethnic populations. Objectives of the present study are to determine association of functional single nucleotide polymorphisms (SNPs) in FcGR and TNF-α genes with CP susceptibility in a cohort from South India.

The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.

Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in folate metabolism and thus may influence the risk of such heart defects. This study was designed to investigate the association of six selected folate-metabolizing gene polymorphisms with the risk of non-syndromic CTHDs in an Indian population.

Polymorphic regions in the interleukin-1 gene and susceptibility to chronic periodontitis: a genetic association study.

Objective: The objectives of this study were to determine the association between single nucleotide polymorphisms (SNPs) in IL1B (-511, +3954), IL1A (-889, +4845), and the variable number of tandem repeats (VNTRs) polymorphism in the IL-1RN gene with chronic periodontitis susceptibility and to analyze gene-gene interactions in a hospital-based sample population from South India.

Subjects And Methods: A total of 400 individuals were recruited for this study; 200 individuals with healthy gingiva and 200 chronic periodontitis patients. Genomic DNA was isolated from peripheral blood samples and genotyping was performed for the above-mentioned single nucleotide and VNTR polymorphisms by polymerase chain reaction, DNA sequencing, and agarose gel electrophoresis.